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5.  An operative approach to address severe genu valgum deformity in the Ellis-van Creveld syndrome 
Background
The genu valgum deformity seen in the Ellis-van Creveld syndrome is one of the most severe angular deformities seen in any orthopaedic condition. It is likely a combination of a primary genetic-based dysplasia of the lateral portion of the tibial plateau combined with severe soft-tissue contractures that tether the tibia into valgus deformations. Progressive weight-bearing induces changes, accumulating with growth, acting on the initially distorted and valgus-angulated proximal tibia, worsening the deformity with skeletal maturation. The purpose of this study is to present a relatively large case series of a very rare condition that describes a surgical technique to correct the severe valgus deformity in the Ellis-van Creveld syndrome by combining extensive soft-tissue release with bony realignment.
Methods
A retrospective review examined 23 limbs in 13 patients with Ellis-van Creveld syndrome that were surgically corrected by two different surgeons from 1982 to 2011. Seven additional patients were identified, but excluded due to insufficient chart or radiographic data. A successful correction was defined as 10° or less of genu valgum at the time of surgical correction. Although not an outcomes study, maintenance of 20° or less of genu valgum was considered desirable. Average age at surgery was 14.7 years (range 7–25 years). Clinical follow-up is still ongoing, but averages 5.0 years (range 2 months to 18 years). Charts and radiographs were reviewed for complications, radiographic alignment, and surgical technique. The surgical procedure was customized to each patient’s deformity, consisting of the following steps: Complete proximal to distal surgical decompression of the peroneal nerveRadical release and mobilization of the severe quadriceps contracture and iliotibial band contractureDistal lateral hamstring lengthening/tenotomy and lateral collateral ligament releaseProximal and distal realignment of the subluxed/dislocated patella, medial and lateral retinacular release, vastus medialis advancement, patellar chondroplasty, medial patellofemoral ligament plication, and distal patellar realignment by Roux-Goldthwait technique or patellar tendon transfer with tibial tubercle relocationProximal tibial varus osteotomy with partial fibulectomy and anterior compartment releaseOccasionally, distal femoral osteotomy
Results
In all cases, the combination of radical soft-tissue release, patellar realignment and bony osteotomy resulted in 10° or less of genu valgum at the time of surgical correction. Complications of surgery included three patients (five limbs) with knee stiffness that was successfully manipulated, one peroneal nerve palsy, one wound slough and hematoma requiring a skin graft, and one pseudoarthrosis requiring removal of hardware and repeat fixation. At last follow-up, radiographic correction of no more than 20° of genu valgum was maintained in all but four patients (four limbs). Two patients (three limbs) had or currently require revision surgery due to recurrence of the deformity.
Conclusion
The operative approach presented in this study has resulted in correction of the severe genu valgum deformity in Ellis-van Creveld syndrome to 10° or less of genu valgum at the time of surgery. Although not an outcomes study, a correction of no more than 20° genu valgum has been maintained in many of the cases included in the study. Further clinical follow-up is still warranted.
Level of evidence
IV.
doi:10.1007/s11832-014-0552-9
PMCID: PMC3935021  PMID: 24488845
Chondroectodermal dysplasia; Ellis-van Creveld syndrome; Genu valgum deformity surgery
6.  The Maurice Ellis lecture for 1986. The responsibility of emergency medicine towards the prevention of road accidents. 
Archives of Emergency Medicine  1986;3(3):163-176.
It is argued that doctors who work in accident and emergency departments should play their part in road accident prevention. It is suggested that this might be done in the field of research, by direct action, through education of the public and by influencing legislation. Examples are given of both small and simple, and major national research projects based in accident and emergency departments. The type of direct action envisaged is modelled on the work of Dr Hayle Hadeson in preventing accidents to children. Examples of the education of the public are drawn from publicity work in the seat-belt campaign, and experiences of lobbying members of parliament in relation to seat-belt legislation are described. The relative under-funding of trauma research compared with cancer of heart disease research is seen as a measure of society's lack of interest in accident prevention, and colleagues unchallenged to do more to alter this situation.
PMCID: PMC1285346  PMID: 3768120
7.  Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum 
Molecular Syndromology  2011;1(6):301-306.
Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation syndrome with the main features cardiac defects, postaxial hexadactyly, mesomelic shortening of the limbs, short ribs, dysplastic nails and teeth, oral frenula and various other abnormalities while mental function is normal. We describe 2 adult EvC patients with the cardinal skeletal features of mesomelic short stature and severe, progressive genu valgum deformity, resulting from loss of function mutations in the EVC genes. While the genu valgum was the predominating and disabling feature in patient 1, patient 2 showed acroosteolyses in the distal phalanges and a symmetrical synostosis of metacarpals in his hands. Moreover, patient 2 developed synostoses in the additional fingers in adolescence which had not been present at the age of 12 years, suggesting a further progression of skeletal disease. Joint fusion of phalanges so far has not been reported in EvC syndrome. Our data further expand the phenotypic spectrum of EvC related skeletal malformations and contribute important new information on the clinical course of EvC syndrome with increasing age.
doi:10.1159/000331338
PMCID: PMC3214960  PMID: 22190900
Ellis-van Creveld syndrome; EVC genes; Genu valgum; Skeletal manifestation; Treatment
8.  Recurrent Dislocation of the Shoulder Joint 
Dr. Anthony F. DePalma is shown. Photograph provided with kind permission of the Art Committee of Thomas Jefferson University, Philadelphia, PA.
Dr. DePalma was the first editor of Clinical Orthopaedics and Related Research, established by the recently formed Association of Bone and Joint Surgeons. The idea of forming the Association of Bone and Joint surgeons had been conceived by Dr. Earl McBride of Oklahoma City in 1947, and organized by a group of twelve individuals (Drs. Earl McBride, Garrett Pipkin, Duncan McKeever, Judson Wilson, Fritz Teal, Louis Breck, Henry Louis Green, Howard Shorbe, Theodore Vinke, Paul Williams, Eugene Secord, and Frank Hand) [9]. The first organizational meeting was held in conjunction with the 1949 Annual Meeting of the AAOS [9] and the first annual meeting held April 1–2, 1949 in Oklahoma City. Drs. McBride and McKeever invited Dr. DePalma to attend that meeting and join the society. According to DePalma, “Even at this small gathering, there were whisperings of the need of another journal to provide an outlet for the many worthy papers written on clinical and basic science subjects” [7]. The decision to form a new journal was finalized in 1951, and Drs. DePalma and McBride signed a contract with J.B. Lippincott Company. Dr. DePalma was designated Editor-in-Chief, and the journal became a reality in 1953 with the publication of the first volume. From the outset he established the “symposium” as a unique feature, in which part of the articles were devoted to a particular topic. Dr. DePalma served as Editor for 13 years until 1966, when he resigned the position and recommended the appointment of Dr. Marshall R. Urist. At his retirement, Clinical Orthopaedics and Related Research was well established as a major journal.
Dr. Anthony F. DePalma was born in Philadelphia in 1904, the son of immigrants from Alberona in central Foggia, Italy [1]. He attended the University of Maryland for his premedical education, then Jefferson Medical College, from which he graduated in 1929. He then served a two-year internship (common at the time) at Philadelphia General Hospital. Jobs were scarce owing to the Depression, and he felt fortunate to obtain in 1931 a position as assistant surgeon at the Coaldale State Hospital, in Coaldale, Pennsylvania, a mining town. However, he became attracted to orthopaedics and looked for a preceptorship (postgraduate training in specialties was not well developed at this time before the establishments of Boards). In the fall of 1932, he was appointed as a preceptor at the New Jersey Orthopaedic Hospital, an extension of the New York Orthopaedic Hospital. In 1939 he acquired Board certification (the first board examination was offered in 1935 for a fee of $25.00 [2]) and was appointed to the NJOH staff [1].
Dr. DePalma volunteered for military service in 1942, and served first at the Parris Island Naval Hospital in South Carolina, then on the Rixey, a hospital ship. In addition to serving to evacuate casualties to New Zealand, his ship was involved in several of the Pacific island assaults (Guam, Leyte, Okinawa). In 1945, he was assigned to the Naval Hospital in Philadelphia [1].
On his return to Philadelphia, he contacted staff members at Jefferson Medical College, including the Chair, Dr. James Martin, and became good friends with Dr. Bruce Gill (a professor of Orthopaedics at the University of Pennsylvania, and one of the earliest Presidents of the AAOS). After he was discharged from the service, he joined the staff of the Department of Orthopaedic Surgery at Jefferson, where he remained the rest of his career. He succeeded Dr. Martin as Chair in 1950, a position he held until 1970 when he reached the mandatory retirement age of 65. He closed his practice and moved briefly to Pompano Beach, Florida, but the lure of academia proved too powerful, and in January, 1971, he accepted the offer to develop a Division of Orthopaedics at the New Jersey College of Medicine and became their Chair. He committed to a five-year period, and then again moved to Pompano Beach, only to take the Florida State Boards and open a private practice in 1977. His practice grew, and he continued that practice until 1983 at the age of nearly 79. Even then he continued to travel and lecture [1].
We reproduce here four of his many contributions on the shoulder. The first comes from his classic monograph, “Surgery of the Shoulder,” published by J. B. Lippincott in 1950 [2]. In this article he describes the evolutionary development of the shoulder, focusing on the distinction between various primates, and relates the anatomic changes to upright posture and prehensile requirements. The remaining three are journal articles related to frozen shoulder [1], recurrent dislocation [3], and surgical anatomy of the rotator cuff [6], three of the most common shoulder problems then and now. He documented the histologic inflammation and degeneration in various tissues including the coracohumeral ligaments, supraspinatus tendon, bursal wall, subscapularis musculotendinous junction, and biceps tendon. Thus, the problem was rather more global than localized. He emphasized, “Manipulation of frozen shoulders is a dangerous and futile procedure.” For recurrent dislocation he advocated the Magnuson procedure (transfer of the subscapularis tendon to the greater tuberosity) to create a musculotendinous sling. All but two of 23 patients he treated with this approach were satisfied with this relatively simple procedure. (Readers will note the absence of contemporary approaches to ascertain outcomes and satisfaction. The earliest outcome musculoskeletal measures were introduced in the 60s by Larson [11] and then by Harris [10], but these instruments were physician-generated and do not reflect the rather more rigorously validated patient-generated outcome measures we use today. Nonetheless, the approach used by Dr. DePalma reflected the best existing standards of reporting results.) Dr. DePalma’s classic article, “Surgical Anatomy of the Rotator Cuff and the Natural History of Degenerative Periarthritis,” [6] reflected his literature review and dissections of 96 shoulders from 50 individuals “unaware of any (shoulder) disability” and mostly over the age of 40. By the fifth decade, most specimens began to show signs of rotator cuff tearing and he found complete tears in nine specimens from “the late decades.” He concluded,
“Based on the…observations, one can reasonably construct the natural history of periarthritis of the shoulder. It is apparent that aging is an important etiological factor, and with aging certain changes take place in the connective tissue elements of the musculotendinous cuff…it is also apparent that in slowly developing lesions of this nature compensating adjustments in the mechanics of the joint take place so that severe alterations in the mechanics of the joint do not appear. However, one must admit that such a joint is very vulnerable and, if subjected to minor trauma, the existing degenerative lesion would be extended and aggravated.”
Thus, he clearly defined the benign effects of rotator cuff tear in many aging individuals, but also the potential to create substantial pain and disability.
Dr. DePalma was a prolific researcher and writer. In addition to his “Surgery of the Shoulder,” he wrote three other books, “Diseases of the Knee: Management in Medicine and Surgery” (published by J.B. Lippincott in 1954) [4], “The Management of Fractures and Dislocations” (a large and comprehensive two volume work published by W.B. Saunders in 1959, and going through 5 reprintings) [5], and “The Intervertebral Disc” (published by W.B. Saunders in 1970, and written with his colleague, Dr. Richard Rothman) [8]. PubMed lists 62 articles he published from 1948 until 1992.
We wish to pay tribute to Dr. DePalma for his vision in establishing Clinical Orthopaedics and Related Research as a unique journal and for his many contributions to orthopaedic surgery.
References
DePalma A. Loss of scapulohumeral motion (frozen shoulder). Ann Surg. 1952;135:193–204.DePalma AF. Origin and comparative anatomy of the pectoral limb. In: DePalma AF, ed. Surgery of the Shoulder. Philadelphia: JB Lippincott; 1950:1–14.DePalma AF. Recurrent dislocation of the shoulder joint. Ann Surg. 1950;132:1052–1065.DePalma AF. Diseases of the Knee: Management in Medicine and Surgery. Philadelphia, PA: JB Lippincott Company; 1954.DePalma AF. The Management of Fractures and Dislocations—An Atlas. Philadelphia: WB Saunders Company; 1959.DePalma AF. Surgical anatomy of the rotator cuff and the natural history of degenerative periarthritis. Surg Clin North Am. 1963;43:1507–1520.DePalma AF. A lifetime of devotion to the Janus of orthopedics. Bridging the gap between the clinic and laboratory. Clin Orthop Relat Res. 1991;265:146–169.DePalma AF, Rothman RH. The Intervertebral Disc. Philadelphia: WB Saunders Company; 1970.Derkash RS. History of the Association of Bone and Joint Surgeons. Clin Orthop Relat Res. 1997;337:306–309.Harris WH. Traumatic arthritis of the hip after dislocation and acetabular fractures: treatment by mold arthroplasty. An end-result study using a new method of result evaluation. J Bone Joint Surg Am. 1969;51:737–755.Larson CB. Rating scale for hip disabilities. Clin Orthop Relat Res. 1963;31:85–93.
doi:10.1007/s11999-007-0105-3
PMCID: PMC2505210  PMID: 18264840
9.  Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates 
BMC Medical Genetics  2010;11:33.
Background
Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic condition with clinical manifestations that include short-limbs and ribs, postaxial polydactyly and dysplastic nails and teeth. In about two thirds of patients, mutations in either EVC or EVC2 genes have been found to be the underlying cause.
Methods
In this paper, we describe the molecular (DNA sequencing) and clinical analysis of six children diagnosed with EvC from four different families from the United Arab Emirates (UAE).
Results
All the children had the common clinical and radiological features of this syndrome. However, DNA sequence analysis of the genes shown to be involved (EVC and EVC2) revealed a novel splice site mutation (c.2047-1G>T) in intron 13 of EVC2 gene in one family. In addition, we confirm previous mutational analyses that showed a truncating mutation in exon 13 of EVC gene (c.1813C>T; p.Q605X) in the second family and a single nucleotide deletion (c.981delG; p.K327fs) in exon 8 of EVC2 gene in the third family. No mutations in the exons, splice sites or the promoter regions of either gene have been found in the index case of the fourth family who exhibited "EvC-like" features.
Conclusions
Given the small population size of UAE, our data illustrates further the molecular heterogeneity observed in EvC patients and excludes the possibility of a common founder effect for this condition in the UAE reflecting the current ethnic diversity of the country.
doi:10.1186/1471-2350-11-33
PMCID: PMC2845574  PMID: 20184732
10.  Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease 
Human Molecular Genetics  2009;18(10):1813-1824.
Mutations identified in a cohort of patients with atrioventricular septal defects as a part of Ellis van Creveld syndrome (EvC syndrome) led us to study the role of two non-homologous genes, EVC and LBN, in heart development and disease pathogenesis. To address the cause of locus heterogeneity resulting in an indistinguishable heart–hand phenotype, we carried out in situ hybridization and immunofluorescence and identified co-localization of Evc and Lbn mRNA and protein. In the heart, expression was identified to be strongest in the secondary heart field, including both the outflow tract and the dorsal mesenchymal protrusion, but was also found in mesenchymal structures of the atrial septum and the atrioventricular cushions. Finally, we studied the transcriptional hierarchy of EVC and LBN but did not find any evidence of direct transcriptional interregulation between the two. Due to the locus heterogeneity of human mutations predicted to result in a loss of protein function, a bidirectional genomic organization and overlapping expression patterns, we speculate that these proteins function coordinately in cardiac development and that loss of this coordinate function results in the characteristics of EvC syndrome.
doi:10.1093/hmg/ddp098
PMCID: PMC2671989  PMID: 19251731
11.  Ellis van Creveld syndrome with unusual association of essential infantile esotropia 
Oman Journal of Ophthalmology  2010;3(1):23-25.
Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, nail dysplasia and in 50-60% cases of congenital cardiac defects. It is an autosomal recessive disorder with mutations of the EVC1 and EVC2 genes located on chromosome 4p16. Patients with this syndrome usually have a high mortality in early life due to cardiorespiratory problems. We present the case of a six- month-old female infant with Ellis-van Creveld syndrome - essential infantile esotropia, which has been infrequently documented in the literature.
doi:10.4103/0974-620X.60017
PMCID: PMC2886224  PMID: 20606869
Postaxial polydactyly; disproportionate dwarfism; hypoplastic nails; essential infantile esotropia
12.  Havelock Ellis. 
PMCID: PMC1291661  PMID: 3045311
15.  James Stokes Ellis 
BMJ : British Medical Journal  2007;335(7618):519.
doi:10.1136/bmj.39323.688600.BE
PMCID: PMC1971149
16.  An Interview With Peter G. Ellis, MD 
doi:10.1200/JOP.0824001
PMCID: PMC2793970  PMID: 20856781
18.  Havelock Ellis Society. 
The Eugenics Review  1967;59(2):148.
PMCID: PMC2906366  PMID: 6075175
19.  Havelock Ellis, 1859-1939 
The Eugenics Review  1939;31(2):111-113.
PMCID: PMC2962389  PMID: 21260350
20.  Havelock Ellis 
The Eugenics Review  1959;51(3):145-147.
PMCID: PMC2973773  PMID: 21260775
21.  Havelock Ellis 
The Eugenics Review  1929;21(1):47-48.
PMCID: PMC2984803
22.  Havelock Ellis's studies 
The Eugenics Review  1929;21(3):237-238.
PMCID: PMC2984869  PMID: 21259915
23.  Growth charts for children with Ellis–van Creveld syndrome 
European Journal of Pediatrics  2010;170(2):207-211.
Ellis–van Creveld (EvC) syndrome is a congenital malformation syndrome with marked growth retardation. In this study, specific growth charts for EvC patients were derived to allow better follow-up of growth and earlier detection of growth patterns unusual for EvC. With the use of 235 observations of 101 EvC patients (49 males, 52 females), growth charts for males and females from 0 to 20 years of age were derived. Longitudinal and cross-sectional data were collected from an earlier review of growth data in EvC, a database of EvC patients, and from recent literature. To model the growth charts, the GAMLSS package for the R statistical program was used. Height of EvC patients was compared to healthy children using Dutch growth charts. Data are presented both on a scale for age and on a scale for the square root of age. Compared to healthy Dutch children, mean height standard deviation score values for male and female EvC patients were −3.1 and −3.0, respectively. The present growth charts should be useful in the follow-up of EvC patients. Most importantly, early detection of growth hormone deficiency, known to occur in EvC, will be facilitated.
doi:10.1007/s00431-010-1287-3
PMCID: PMC3022156  PMID: 20830486
Growth; Body height; Ellis–van Creveld syndrome; Growth charts
24.  On the mechanism underlying photosynthetic limitation upon trigger hair irritation in the carnivorous plant Venus flytrap (Dionaea muscipula Ellis) 
Journal of Experimental Botany  2011;62(6):1991-2000.
Mechanical stimulation of trigger hairs on the adaxial surface of the trap of Dionaea muscipula leads to the generation of action potentials and to rapid leaf movement. After rapid closure secures the prey, the struggle against the trigger hairs results in generation of further action potentials which inhibit photosynthesis. A detailed analysis of chlorophyll a fluorescence kinetics and gas exchange measurements in response to generation of action potentials in irritated D. muscipula traps was used to determine the ‘site effect’ of the electrical signal-induced inhibition of photosynthesis. Irritation of trigger hairs and subsequent generation of action potentials resulted in a decrease in the effective photochemical quantum yield of photosystem II (ΦPSII) and the rate of net photosynthesis (AN). During the first seconds of irritation, increased excitation pressure in photosystem II (PSII) was the major contributor to the decreased ΦPSII. Within ∼1 min, non-photochemical quenching (NPQ) released the excitation pressure at PSII. Measurements of the fast chlorophyll a fluorescence transient (O-J-I-P) revealed a direct impact of action potentials on the charge separation–recombination reactions in PSII, although the effect seems to be small rather than substantial. All the data presented here indicate that the main primary target of the electrical signal-induced inhibition of photosynthesis is the dark reaction, whereas the inhibition of electron transport is only a consequence of reduced carboxylation efficiency. In addition, the study also provides valuable data confirming the hypothesis that chlorophyll a fluorescence is under electrochemical control.
doi:10.1093/jxb/erq404
PMCID: PMC3060689  PMID: 21289078
Action potential; carnivorous plant; chlorophyll a fluorescence; Dionaea muscipula; electrical signal; O-J-I-P; photosynthesis; respiration
25.  Mandibular Angle Fractures: A Clinical and Biomechanical Comparison—the Works of Ellis and Haug 
In a series of articles spanning 8 years, Ed Ellis reviewed the clinical results of the treatment of 478 mandibular angle fractures managed by eight different techniques. During a series of benchtop investigations employing polyurethane synthetic mandible replicas, Rich Haug investigated the biomechanical behavior of approximately 15 different techniques designed to reconstruct mandibular angle fractures. This article reviews these two series of investigations in an attempt to gain insight into the biomechanical and biological factors that affect the successful reconstruction of mandibular angle fractures. It appears that the current techniques used to reconstruct mandibular angle fractures are sound from the standpoint of biomechanics within a range of forces encountered during clinical function. It also appears that an unsuccessful reconstruction is based on a biological result of a behavioral issue such as noncompliance, substance abuse, and/or nutritional or immune compromise.
doi:10.1055/s-0028-1098961
PMCID: PMC3052729  PMID: 22110787
Mandibular angle fractures; yield point; yield load; yield displacement; stiffness; biomechanics; polyurethane synthetic mandible replicas

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