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1.  Prenatal diagnosis of pygopagus tetrapus parasitic twin: case report 
Background
Asymmetric and parasitic conjoined twins are rarer anomalies of monochorionic monoamniotic twins, consisting of an incomplete twin attached to the fully developed body of the co-twin.
Case presentation
A 30-year-old multigravid woman referred to maternal fetal unit due to polyhydramnios at 28th week of gestation. Sonographic examination revealed a single fetus and polyhydramnios with amniotic fluid index 30 cm. The fetus had normal apparent single head, spine, thorax, abdomen, two upper and two lower limbs, and two relatively well developed rudimentary parasitic lower limbs at sacral region. Lower limbs of the autosite were moving freelly but no movement was detected at the parasite. The parasite contained irregular lower limbs and left foot with three toes. Short and deformed long bones were also present in the parasitic limbs. A Cesarean section was performed at 38th week of gestation and a live female infant weighing 3600 g was delivered. The parasitic lower limbs were totally excised. Post-operative period was uneventful and the newborn was discharged as healthy. Post-natal follow-up was normal at nine-month-old.
Conclusion
Pygopagus tetrapus parasitic twin is a rare form of conjoined twins and in utero diagnosis with ultrasound assists in prenatal management and counselling with parents.
doi:10.1186/1471-2393-4-13
PMCID: PMC481071  PMID: 15251046
2.  Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity 
Background
Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation.
Case Presentation
A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4)(p14) karyotype.
Conclusion
The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome.
doi:10.1186/1471-2393-3-1
PMCID: PMC149368  PMID: 12546710
Prenatal diagnosis; Wolf-Hirschhorn syndrome
3.  Prenatal diagnosis of Neu-Laxova syndrome: a case report 
Background
Neu-Laxova syndrome is a rare congenital abnormality involving multiple systems. We report a case of Neu-Laxova syndrome (NLS) diagnosed prenatally by ultrasound examination.
Case presentation
A 29-year-old gravida 3, para 2 woman was first seen in our antenatal clinic at 38 weeks' pregnancy. Except for the consanguinity and two previous abnormal stillborn babies her medical history was unremarkable. On ultrasound examination microcephaly, flat forehead, micrognathia, intrauterine growth restriction, generalized edema of the skin, hypoplastic chest, excessive soft tissue deposition of hands and feet, joint contractures and a penis without scrotal sacs were detected. She delivered a 2000 g male fetus. He died five minutes after delivery. Postmortem examination confirmed the diagnosis of Neu-Laxova syndrome.
Conclusion
Because of the autosomal recessive inheritance of Neu-Laxova syndrome genetic counseling and early-serial ultrasound examination should be performed at risk families. Early diagnosis of the disease may offer termination of the pregnancy as an option.
doi:10.1186/1471-2393-2-1
PMCID: PMC88995  PMID: 11895570
4.  Prenatal diagnosis of Caudal Regression Syndrome : a case report 
Background
Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors.
Case presentation
We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis.
Conclusion
Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.
doi:10.1186/1471-2393-1-8
PMCID: PMC64494  PMID: 11782287

Results 1-4 (4)