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1.  Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report 
Cases Journal  2008;1:109.
Background
Roberts syndrome (Pseudothalidomide) is a rare birth defect that causes severe bone malformation complex. The bones of the arms, and in some cases other appendages, may be extremely shortened and even absent. The fingers of the hands may be fused. An extreme case results in the absence of the upper bones of both the arms and legs so that the hands and feet appear attached directly to the body. This is called tetraphocomelia.
Case presentation
We report on a two-year-old boy of Austrian origin who manifests a constellation of malformation complex include prenatal and postnatal growth retardation, craniofacial anomalies and defective development of all four extremities. The overall clinico-radiographic features were compatible with Roberts syndrome (Pseudothalidomide). Significant unilateral femoral-tibial synostosis was additional malformation.
Conclusion
Associated malformations and symptoms may be the key factor in the differential diagnosis of neonatal malformation complex. Roberts's syndrome may be genetically transmitted within families as an autosomal recessive trait or may be the result of spontaneous/sporadic changes in the gene. Because the signs of the disorder so closely mimic those caused by the ingestion of thalidomide, the term "pseudo-thalidomide" is frequently used.
In this report we describe total femorotibial fusion in a child manifesting the phenotypic features consistent with Roberts syndrome from a healthy parents but first cousins in Austria. Aggressive medical intervention is of prime importance, as is forthright parental counselling when discussing the possible outcome for these patients.
doi:10.1186/1757-1626-1-109
PMCID: PMC2542345  PMID: 18710560
2.  Familial Poland anomaly. 
Journal of Medical Genetics  1982;19(4):293-296.
The Poland anomaly is usually a non-genetic malformation syndrome. This paper reports two second cousins who both had a typical left sided Poland anomaly, and this constitutes the first recorded case of this condition affecting more than one member of a family. Despite this, for the purposes of genetic counselling, the Poland anomaly can be regarded as a sporadic condition with an extremely low recurrence risk.
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PMCID: PMC1048897  PMID: 6288948
3.  Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome. 
Archives of Disease in Childhood  1993;68(4):453-457.
The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be seen. Two cousins of a previously reported subject who had severe genital ambiguity and partial androgen insensitivity were investigated. Neither of the cousins had genital abnormalities as marked as the index case, who also had qualitatively abnormal androgen binding and two mutations of the androgen receptor gene. Despite marked phenotypic differences between the index case and his cousins, similar androgen binding and the same androgen receptor mutations were shown in the cousins. Furthermore, one of the androgen receptor gene mutations has been shown in the mother and sister of one of the boys indicating that they are carriers. Thus phenotypic variation in families affected by partial androgen insensitivity is dependent on factors other than abnormalities of the androgen receptor gene alone. Although carrier status in partial androgen insensitivity can be determined, the severity of genital abnormalities in an affected offspring cannot be reliably predicted.
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PMCID: PMC1029262  PMID: 8099270
4.  Identification of Pedigree Relationship from Genome Sharing 
G3: Genes|Genomes|Genetics  2013;3(9):1553-1571.
Determination of degree of relationship traditionally has been undertaken using genotypic data on individual loci, typically assumed to be independent. With dense marker data as now available, it is possible to identify the regions of the genome shared identical by descent (ibd). This information can be used to determine pedigree relationship (R), e.g., cousins vs. second cousins, and also to distinguish pedigrees that have the same Wright’s relationship (R) such as half-sibs and uncle–nephew. We use simulation to investigate the accuracy with which pedigree relationship can be inferred from genome sharing for uniparental relatives (a common ancestor on only one side of their pedigree), specifically the number, position (whether at chromosome ends), and length of shared regions ibd on each chromosome. Moments of the distribution of the likelihood ratio (including its expectation, the Kullback-Leibler distance) for alternative relationships are estimated for model human genomes, with the ratio of the mean to the SD of the likelihood ratio providing a useful reference point. Two relationships differing in R can be readily distinguished provided at least one has high R, e.g., approximately 98.5% correct assignment of cousins and half-cousins, but only approximately 75% for second cousins once removed and third cousins. Two relationships with the same R can be distinguished only if R is high, e.g., half-sibs and uncle–nephew, with probability of correct assignment being approximately 5/6.
doi:10.1534/g3.113.007500
PMCID: PMC3755916  PMID: 23893739
relationship; identity-by-descent; genomic identity; likelihood
5.  Discordant, non-syndromic, congenital diaphragmatic defects in sibs. 
Journal of Medical Genetics  1989;26(12):781-782.
We report an Arab sibship of two brothers with non-syndromic, congenital diaphragmatic defects (CDD). The first had an extensive, left, Bochdalek-type hernia and the second hemidiaphragmatic agenesis; these were verified by surgical exploration and necropsy respectively. The parents are healthy second cousins. Other reported discordant cases of CDD are briefly reviewed.
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PMCID: PMC1015762  PMID: 2614799
6.  Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition. 
Journal of Medical Genetics  1989;26(8):504-510.
Two female cousins were found to be affected with severe retinal dystrophy characterised by visual impairment from birth and profound photophobia in the absence of night blindness. Minimal fundus changes with a small foveal atrophy in the older cousin and slight macular pigment epithelial changes suggestive of early bull's eye appearance in the younger were detected, indicative of a cone-rod type of congenital amaurosis. This was associated with trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair (including hypertrophied circumareolar hair on the breasts of the older cousin). The mode of inheritance appears to be autosomal recessive.
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PMCID: PMC1015672  PMID: 2769722
7.  Next-generation Sequencing Revealed a Novel Mutation in the Gene Encoding the Beta Subunit of Rod Phosphodiesterase 
Ophthalmic genetics  2014;35(3):142-150.
Purpose
To report the phenotypes caused by a novel mutation in the PDE6B gene in a family with two affected siblings and one affected cousin with a 2-year follow-up.
Design
Three patients from a family with a history of retinitis pigmentosa underwent clinical evaluations. The affected patients’ DNA was analyzed using next-generation sequencing and segregation analyses were performed for the family.
Setting
Edward S. Harkness Eye Institute, New York Presbyterian Hospital.
Participants
Two siblings, one cousin, and five unaffected family members.
Main outcome measures
Macular appearance assessed by funduscopy, autofluorescence imaging, spectral-domain optical coherence tomography and visual function assessed by electroretinography.
Results
The proband, brother, and cousin had rod-cone degeneration with cystoid macular edema. Fundus autofluorescence showed hyperautofluorescent ring constriction over time. Spectral-domain optical coherence tomography revealed retinal pigment epithelium atrophy, loss of external limiting membrane, retinal layer thinning, and reduction in ellipsoid zone length over time. Next-generation whole exome sequencing revealed a homozygous c.1923_1969ins6del47 nonsense PDE6B mutation, which has not been previously described, that segregated with the disease in the family.
Conclusions
The homozygous PDE6B mutation causes retinitis pigmentosa. Acetazolamide treatment improved visual acuity but rod degeneration continued. Despite having the same mutation and living in the same environment, the proband’s brother progressed at a faster rate starting at a younger age, suggesting that gene modifiers may influence the expressivity of the phenotype. Next-generation sequencing, used to discover this mutation, is a practical new technology that can detect novel disease-causing alleles, where previous arrayed primer extension (APEX) technology could not.
doi:10.3109/13816810.2014.915328
PMCID: PMC4130765  PMID: 24828262
Fundus autofluorescence; next-generation sequencing; optical coherence tomography; PDE6; retinitis pigmentosa; rod phosphodiesterase; whole exome sequencing
8.  National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology 
Journal of Medical Genetics  2002;39(1):16-22.
We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia, and coloboma (MAC) born in Scotland during a 16 year period beginning on 1 January 1981. A total of 198 cases were confirmed giving a minimum live birth prevalence of 19 per 100 000. One hundred and twenty-two MAC cases (61.6%) from 115 different families were clinically examined and detailed pregnancy, medical, and family histories obtained. A simple, rational, and apparently robust classification of the eye phenotype was developed based on the presence or absence of a defect in closure of the optic (choroidal) fissure. A total of 85/122 (69.7%) of cases had optic fissure closure defects (OFCD), 12/122 (9.8%) had non-OFCD, and 25/122 (20.5%) had defects that were unclassifiable owing to the severity of the corneal or anterior chamber abnormality. Segregation analysis assuming single and multiple incomplete ascertainment, respectively, returned a sib recurrence risk of 6% and 10% in the whole group and 8.1% and 13.3% in the OFCD subgroup. Significant recurrence risks were found in both unilateral and bilateral disease. In four families, one parent had an OFCD, two of which were new diagnoses in asymptomatic subjects. All recurrences in first degree relatives occurred in the OFCD group with a single first cousin recurrence seen in the non-OFCD group. A total of 84/122 of the MAC cases were screened for mutations in the coding regions of PAX6, CHX10, and SIX3. No pathogenic mutations were identified in the OFCD cases. A single PAX6 homeodomain missense mutation was identified in a subject with partial aniridia that had been initially misclassified as coloboma.
doi:10.1136/jmg.39.1.16
PMCID: PMC1734963  PMID: 11826019
9.  Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. 
Journal of Clinical Investigation  1990;86(5):1729-1737.
A membrane-bound cytochrome b, a heterodimer formed by a 91-kD glycoprotein (heavy chain) and a 22-kD polypeptide (light chain), is an essential component of the phagocyte NADPH-oxidase responsible for superoxide generation. Cytochrome b is absent in two subgroups of chronic granulomatous disease (CGD), an inherited disorder characterized by the lack of oxidase activity. Mutations in the cytochrome heavy chain gene, encoded by the CYBB locus in Xp21.1, result in the X-linked form of CGD. A rare subgroup of autosomal recessive CGD also lacks cytochrome b (A- CGD), but the genetic defect has not previously been identified. In order to search for possible mutations in the cytochrome light chain locus, CYBA, the structure of this gene was characterized. The CYBA locus was localized to 16q24, and the approximately 600-bp open reading frame determined to be encoded by six exons that span approximately 8.5 kb. Three unrelated patients with A- CGD were studied for evidence of mutations in the light chain gene. One patient, whose parents were first cousins, was homozygous for a large deletion that removed all but the extreme 5' coding sequence of the gene. The other two patients had a grossly normal light chain transcript on Northern blot of mononuclear cell RNA. The light chain transcript was amplified by the polymerase chain reaction and sequenced. One patient was a compound heterozygote for two alleles containing point mutations in the open reading frame that predict a frame shift and a nonconservative amino acid replacement, respectively. The second patient, whose parents were second cousins, was homozygous for a different single-base substitution resulting in another nonconservative amino acid change. These results indicate that A- CGD can results from defects in the gene encoding the 22-kD light chain of the phagocyte cytochrome b.
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PMCID: PMC296926  PMID: 2243141
10.  Bilateral absence of the kidneys and ureters. Three cases reported in one family. 
Journal of Medical Genetics  1977;14(3):205-209.
Three infant boys with bilateral absence of the kidneys and hypoplasia of the lungs are described. Two of the infants were brothers and the third was a first cousin. They were born to 2 sisters whose husbancs were unrelated to their wives and to each other. None of the parents had renal problems. The occurrence of this syndrome in 2 male sibs is suggestive of an autosomal recessive inheritance pattern which has been previously described. An additional male first cousin born to the mother's sister is sugesstive of sex-linked inheritance for this particular family, an inheritance pattern not previously described.
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PMCID: PMC1013558  PMID: 881712
11.  Agenesis of the Corpus Callosum in Two Sisters 
Journal of Medical Genetics  1973;10(3):266-269.
Two sisters are described. They are offspring of Arabic parents who are both first and second cousins, through both sets of grandparents; additionally the father's parents are first cousins. The diagnosis of agenesis of the corpus callosum in the propositae was made by the characteristic picture on the pneumoencephalogram.
The clinical symptoms in the two sisters varied considerably. The older sister had shown delayed psychomotor development in infancy, mild mental retardation, and developed seizures at 7 years of age of both the grand mal and akinetic types. Her physical and neurological examination did not show any abnormalities. The EEG was severely abnormal with slow wave activity over the posterior parts of the brain and focal spiking. The younger sister presented at 6 months of age with failure to thrive, generalized hypotonia, but without seizures. Her EEG was within normal limits.
This anomaly was probably transmitted by an autosomal recessive gene. The clinical and genetic aspects of this syndrome are discussed.
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PMCID: PMC1013031  PMID: 4204338
12.  Autosomal recessive sudden unexpected death in children probably caused by a cardiomyopathy associated with myopathy. 
Journal of Medical Genetics  1979;16(5):341-346.
The propositus, who died suddenly at the age of 22 months, was investigated because of an unusual myopathy. Family history revealed two sisters and four cousins who had also died suddenly and unexpectedly. The finding of asymmetric septal hypertrophy by echocardiography in the propositus suggested that the cause of the sudden death in the relatives was an undetected cardiomyopathy accompanying a mild and often subclinical myopathy. The affected children were in two sibships and both sets of parents were first cousins. The mother of one sibship was the sister of the father of the other. It is suggested that a gene causes a mild autosomal recessive myopathy with cardiomyopathy that is often undiagnosed and usually ends in sudden unexpected death in the second year of life. The same gene may manifest on echocardiogram in some heterozygotes as asymmetric septal hypertrophy.
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PMCID: PMC1012606  PMID: 513079
13.  Independent De Novo 22q11.2 Deletions in First Cousins With DiGeorge/Velocardiofacial Syndrome 
Deletions of chromosome 22q11.2 are found in the vast majority of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS). This most frequent microdeletion syndrome is estimated to occur in 1 in 4,000 live births. The majority of deletions are de novo, with 10% or less inherited from an affected parent. Here, we report two separate families with recurrence of a 22q11.2 deletion in first cousins. In each family, unaffected siblings (brother and sister) had an affected child. Fluorescence in situ hybridization (FISH) studies of the parents of each affected child were normal and hence, relatives were not considered at an increased risk for recurrence in another pregnancy. We used highly polymorphic microsatellite repeat markers from within 22q11.2 to determine the parental origin of each cousin’s deletion and to assess whether parental germline mosaicism for the 22q11.2 deletion might be a factor in these cases. This analysis confirmed that in each case, the deletion occurred on a chromosome 22 derived from unrelated parents, consistent with independent de novo deletion events. Thus, we concluded that germline mosaicism as the underlying mechanism for affected cousins in these families was unlikely. Our findings underscore the high frequency with which the 22q11.2 deletion occurs in the general population and demonstrate the important role that PCR-based parental origin determination can have in recurrence risk counselling. Furthermore, relatives of affected individuals may benefit from genetic counselling and consider prenatal testing for the 22q11.2 deletion in future pregnancies, despite a low recurrence risk.
doi:10.1002/ajmg.a.20421
PMCID: PMC2811370  PMID: 14708107
chromosome 22q11.2 deletion; VCFS; DiGeorge syndrome; germline mosaicism
14.  Exome Sequencing in Familial Corticobasal Degeneration 
Parkinsonism & related disorders  2013;19(11):1049-1052.
Background
Corticobasal degeneration (CBD) is a neurodegenerative, sporadic disorder of unknown cause. Few familial cases have been described.
Objective
We aim to characterize the clinical, imaging, pathological and genetic features of two familial cases of CBD.
Methods
We describe two first cousins with CBD associated with atypical MRI findings. We performed exome sequencing in both subjects and in an unaffected first cousin of similar age.
Results
The cases include a 79-year-old woman and a 72-year-old man of Native American and British origin. The onset of the neurological manifestations was 74 and 68 years respectively. Both patients presented with a combination of asymmetric parkinsonism, apraxia, myoclonic tremor, cortical sensory syndrome, and gait disturbance. The female subject developed left side fixed dystonia. The manifestations were unresponsive to high doses of levodopa in both cases. Extensive bilateral T1-W hyperintensities and T2-W hypointensities in basal ganglia and thalamus were observed in the female patient; whereas these findings were more subtle in the male subject. Postmortem examination of both patients was consistent with corticobasal degeneration; the female patient had additional findings consistent with mild Alzheimer’s disease. No Lewy bodies were found in either case. Exome sequencing showed mutations leading to possible structural changes in MRS2 and ZHX2 genes, which appear to have the same upstream regulator miR-4277.
Conclusions
Corticobasal degeneration can have a familial presentation; the role of MRS2 and ZHX2 gene products in CBD should be further investigated.
doi:10.1016/j.parkreldis.2013.06.016
PMCID: PMC4100470  PMID: 23867865
corticobasal degeneration; corticobasal syndrome; apraxia; genetics; progressive supranuclear palsy
15.  Annotated type catalogue of the Orthalicoidea (Mollusca, Gastropoda) in the Royal Belgian Institute of Sciences, Brussels, with descriptions of two new species 
ZooKeys  2011;1-50.
The type status is described of 57 taxa from the superfamily Orthalicoidea in the collection of the Brussels museum. Two new species are described: Stenostylus perturbatus sp. n., and Suniellus adriani sp. n. New lectotypes are designated for Bulimulus (Naesiotus) amastroides Ancey, 1887; Bulimulus blanfordianus Ancey, 1903; Bulimulus montivagus chacoensis Ancey, 1897; Bulimus coloratus Nyst, 1845; Plecochilus dalmasi Dautzenberg, 1900; Placostylus porphyrostomus elata Dautzenberg, 1923; Bulimulus ephippium Ancey, 1904; Bulimus fulminans Nyst, 1843; Bulimus funckii Nyst, 1843; Orphnus thompsoni lutea Cousin, 1887; Bulimus melanocheilus Nyst, 1845; Orphnus thompsoni nigricans Cousin, 1887; Orphnus thompsoni olivacea Cousin, 1887; Bulimulus pollonerae Ancey, 1897; Orphnus thompsoni zebra Cousin, 1887. New combinations are: Bostryx borellii (Ancey, 1897); Bostryx carandaitiensis (Preston, 1907); Protoglyptus mazei (Crosse, 1874); Kuschelenia (Vermiculatus) sanborni (Haas, 1947). New synonymies are established for the following nominal taxa: Orphnus thompsoni var. lutea Cousin, 1887 = Kara thompsonii (Pfeiffer, 1845); Orphnus thompsoni var. nigricans Cousin, 1887 = Kara thompsonii (Pfeiffer, 1845); Thaumastus nystianus var. nigricans Cousin, 1887 = Drymaeus (Drymaeus) nystianus (Pfeiffer, 1853); Orphnus thompsoni var. olivacea Cousin, 1887 = Kara thompsonii (Pfeiffer, 1845); Orphnus thompsoni var. zebra Cousin, 1887 = Kara thompsonii (Pfeiffer, 1845).
doi:10.3897/zookeys.101.1133
PMCID: PMC3118702  PMID: 21747669
Bolivia; Amphibulimidae; Bulimulidae; Bothriembryontidae; Megaspiridae; Orthalicidae; Simpulopsidae; types; biohistory
16.  Classic Kaposi’s sarcoma in three unrelated Turkish children born to consanguineous kindreds 
Pediatrics  2010;125(3):e704-e708.
Infection by human herpes virus 8 (HHV-8) in childhood is common in the Mediterranean basin; however, classic Kaposi’s sarcoma (KS) is exceedingly rare in children not infected with HIV and not receiving immunosuppression, with only 30 cases reported since 1960. We recently reported two children with autosomal and X-linked recessive primary immunodeficiencies underlying KS in a context of multiple clinical manifestations. These reports suggested that classic KS in otherwise healthy children might also result from inborn errors of immunity more specific to HHV-8. In this paper, we describe three unrelated Turkish children with classic KS born to first-cousin parents. The first patient, a girl, developed KS at two years of age with disseminated cutaneous and mucosal lesions. The clinical course progressed rapidly and the patient died within three months, despite treatment with vincristine. The other two children developed a milder form of KS at the age of nine years, with multiple cutaneous lesions. A boy treated with interferon alpha therapy for 12 months is now in full remission at age 14, two years after treatment. The second girl is currently stabilized with etoposide, which was begun four months ago. None of the three children had any relevant familial history or other clinical features. The occurrence of classic KS in three unrelated Turkish children, each born to consanguineous parents, strongly suggests that autosomal recessive predisposition may drive the rare occurrence of HHV-8-associated classic KS in children.
doi:10.1542/peds.2009-2224
PMCID: PMC2888046  PMID: 20156905
17.  Absent left hemidiaphragm, arhinencephaly, and cardiac malformations. 
Journal of Medical Genetics  1978;15(5):399-401.
An infant is reported with absent left hemidiaphragm, hydrocephalus, arhinencephaly, and cardiovascular anomalies. The parents are second cousins.
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PMCID: PMC1013741  PMID: 739533
18.  Family occurrence of achalasia and diffuse spasm of the oesophagus. 
Gut  1988;29(11):1595-1602.
In view of the unknown aetiology of achalasia and diffuse oesophageal spasm we report four families (father/son, mother/son, brother/brother, cousin/cousin) with achalasia and oesophageal spasm examined by radiology, endoscopy and manometry. Family occurrence of oesophageal motor disorders supports the hypothesis that a genetic trait may play a role in the pathogenesis. The family coincidence of achalasia and oesophageal spasm supports a close relationship between the two diseases.
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PMCID: PMC1433819  PMID: 3061886
19.  X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males. 
Journal of Medical Genetics  1991;28(11):738-741.
We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brother. The cousin has less typical dysmorphism and a virtually normal routine blood count, but haemoglobin H inclusions were found in his red blood cells showing that he has the same condition. This report expands the clinical phenotype of the ATR-X syndrome and emphasises that a normal blood count does not exclude the diagnosis.
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PMCID: PMC1017107  PMID: 1770529
20.  A pedigree study of perinatally lethal renal disease. 
Journal of Medical Genetics  1985;22(2):104-111.
A family study of perinatally lethal renal disease (PLRD) was undertaken in the State of Victoria, Australia, for the years 1961 to 1980. A total of 221 cases was ascertained through hospital and necropsy records and confirmed by necropsy findings. There were 134 cases of bilateral renal agenesis (BRA), 34 cases of unilateral agenesis with dysplasia of the other kidney (URA/RD), 42 cases of bilateral renal dysplasia (BRD), and 11 cases of renal aplasia. Parents of 131 babies were interviewed and 153 parents from 82 families had a renal ultrasound examination. In the period of best ascertainment (1975 to 1980) the frequency of PLRD was 0.27 per 1000 and of BRA 0.16 per 1000. There were 10 cases of sirenomelia, a frequency of 0.008 per 1000. For all families of PLRD, 15 of 423 (3.6%) sibs and three of 1579 (0.2%) first cousins were affected. One family had three sibs with BRA and four had two sibs with BRA. One pair of sibs and two first cousins had BRA in one and URA/RD in the other affected. One baby had BRD with an affected first cousin. The nature of the renal lesion was not established. When the index case had BRA, 14 in 283 (5.6%) sibs had PLRD. Where the index case had BRA and urogenital defects, but no birth defects in other organs, 12 of 148 sibs (8%) were affected. None of the sibs had BRA when the index case had BRA as part of a multiple malformation complex. In the multiple malformation group, however, five of 40 (12.5%) sibs had similar patterns of malformations. Renal ultrasound abnormalities were no more frequent in parents of two affected babies (one of 18) than in the other parents (nine of 135). Our findings confirm that BRA and URA are genetically related. There are a number of conclusions which are important for genetic counselling. There is a high likelihood of recurrence (8%) in sibs when the index case has BRA and urogenital abnormalities alone. When BRA is part of a multiple malformation complex, the risk of recurrence of multiple malformations is significant (12.5%), but risk recurrence of BRA is low. The finding of renal ultrasound abnormalities in the parents was not informative.
PMCID: PMC1049393  PMID: 3886908
21.  Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. 
Journal of Medical Genetics  1988;25(1):37-40.
Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed.
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PMCID: PMC1015420  PMID: 2832607
22.  Family studies of relation between Perthes disease and congenital dislocation of the hip 
Journal of Medical Genetics  1978;15(4):296-299.
A family study of Perthes disease and congenital dislocation of the hip was made in the Faroe Islands, with a population of 40 000. The examination included 1123 sibs and first cousins of 43 probands with Perthes disease, 1942 sibs and first cousins of 59 dislocation probands, and 5205 sibs and first cousins of 172 unaffected matched controls. Both conditions occur with exceptionally high incidences in this population. Thus the incidence of Perthes disease was found to be 41: 10 000 males and 7: 10 000 females, of congenital dislocation of the hip 7: 10 000 males and 59: 10 000 females. These figures are 3 to 4 times higher than those commonly observed in Caucasian populations.
Among the 1123 relatives of Perthes probands, we found 10 cases of Perthes disease and 9 cases of dislocation; among the 1942 relatives of dislocation probands, there were 11 cases of Perthes disease and 23 cases of dislocation. Thus both disorders show an accumulation within the same families. On the other hand among the 5205 relatives of probands selected because the hips were unaffected, we found only 3 cases of Perthes disease and 10 cases of dislocation.
Considering the conspicuously low familial accumulation of Perthes disease seen in a low-risk population elsewhere (South Wales), the high incidence of the two disorders and the simultaneously strong intrafamilial accumulation in the Faroe population seem to indicate that the search for exogenous influences, specific to this area, should be intensified.
PMCID: PMC1013702  PMID: 712763
23.  Normal black kidney 
A black kidney has 3 major differential diagnoses: hemosiderosis, lipofuscin pigment and melanotic renal cell carcinoma. Excluding lipofuscin, the other 2 are accompanied by an abnormal renal function. We report on a 25-year-old man who intended to donate a kidney to his cousin. On the operating room table when we incised the left flank region and exposed the kidney, we found a firm and black kidney so the operation was cancelled due to potential vascular injuries. Days after the incomplete procedure, we reviewed the donor’s biochemistry and imaging to reassess his renal function, but the results showed quite normal renal function again. The result of Ham test was also negative. Two weeks later, we began the operation, removed the same left kidney and found that it was in the same conditions as it was before. We took the opportunity to send needle biopsies of the kidney for histopathologic analysis. The analysis showed a melanotic kidney without pathological changes in glomeruli and interstitium and vessels. A black kidney may result in hemosiderin, lipofuscin or melanin deposits in the kidney, which can confirm the diagnosis; however, special tests for underlying disease and renal function should be considered. Some causes of black kidney lead to abnormal function, but our patients’s kidney returned to normal.
doi:10.5489/cuaj.1207
PMCID: PMC4001663  PMID: 24839502
24.  Prevalence of the palmaris longus muscle and its relationship with grip and pinch strength: a study in a Turkish pediatric population 
Hand (New York, N.Y.)  2013;8(2):215-220.
Clinical studies generally reveal a trend of variation in the reported prevalence of the palmaris longus (PL) muscle absence. The aim of this study was to find an answer to the question of whether the congenital absence of tendon would affect hand functions or not. A total of 585 subjects, comprised of 305 males and 280 females, were included in our study. Mean age was 8.9 ± 1.4 standard deviation within a range of 6–11. For both sexes, the groups were divided further into three subgroups including 6–7, 8–9, and 10–11 years of age ranges. The grip strength of each hand and pinch strength of all fingers of each subject were measured separately. The absence of PL tendon in the right hand was 35.4 % in females, 25.9 % in males, and 30.4 % in overall average. The distribution of absence of the palmaris longus muscle between both genders was statistically significant. The p value for the right hand was 0.013. The absence of PL tendon in the left hand was 37.5 % in females, 27.9 % in males, and an overall average of 32.5 %. The p value for the left hand was 0.017. In terms of grip strength, a comparison between females and males did not reveal a significant difference. The pinch strength of the second fingers of both hands did not show any difference in both sexes. Pinch strength of the third finger of the right hand was different only in girls of subgroup 6–7 ages (p = 0.024). In girls, the pinch strength of the fourth finger of the right hand of subgroups 6–7 and 10–11 ages showed difference (p = 0.009 and p = 0.026, respectively). In boys, the fourth finger in subgroup of 8–9 ages showed significant difference in both hands (p = 0.011). The fifth fingers of both hands were found different in males for only subgroup of 8–9 ages (p = 0.001). Pinch strength of the fifth finger of the right hand was different in females for only subgroups of 6–7 and 10–11 ages (p = 0.023 and p = 0.047, respectively). While grip strength of the hand was not affected in the case of absence of the palmaris longus, in both sexes, pinch strength of the fourth and fifth fingers of both hands decreased.
doi:10.1007/s11552-013-9509-6
PMCID: PMC3652998  PMID: 24426922
Children; Grip strength; Palmaris longus; Pinch strength; Prevalence
25.  Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome. 
Journal of Medical Genetics  1998;35(4):288-292.
Neonatal diabetes mellitus is a rare condition, the causes of which are mostly unknown. One well defined though very rare entity is the autosomal recessive Wolcott-Rallison syndrome, in which permanent neonatal diabetes, osteopenia, and epiphyseal dysplasia occur. Only five previous families have been reported, and here we describe the second in which parental consanguinity was present. The proband was born to first cousin parents and died at 2 years from the sequelae of poorly controlled diabetes. To test the hypothesis that mutation of PAX4, required in the mouse for pancreatic islet beta cell development, might cause WRS, the structure of the human PAX4 gene was deduced and DNA from two unrelated WRS patients sequenced. No PAX4 mutation was present, though the entire coding region was sequenced in both patients. It therefore appears unlikely that PAX4 is involved in the aetiology of Wolcott-Rallison syndrome, though it remains a good candidate for other forms of neonatal diabetes mellitus.
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PMCID: PMC1051275  PMID: 9598721

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