title: Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes.
abstract: Thirty cases of arthrogryposis associated with longstanding oligohydramnios were identified among 2,500 cases of arthrogryposis (1.2%) and were reviewed for clinical features and natural history. None had renal agenesis or renal disease. Twenty-two had a history of known rupture of membranes. Only 50% had pulmonary hypoplasia at birth and only two died (7%). Sixty percent (18/30) seemed to have their multiple congenital contractures (MCC) primarily on the basis of compression related to the longstanding oligohydramnios and responded well to physical therapy. On average they did not have intrauterine growth restriction. "Potter" facies and remarkable skin changes were present in all. An excess of males was observed in spite of the lack of genitourinary anomalies.
authors.affiliation: Departments of Medical Genetics, Pediatrics, University of British Columbia, BC Children's Hospital Vancouver, British Columbia, Canada.
authors.forename: Judith G
authors.initials: JG
authors.lastname: Hall
mesh_terms: D000015:Abnormalities, Multiple; D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D001724:Birth Weight; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009099:Multiple Birth Offspring; D016104:Oligohydramnios / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D012867:Skin / Q000473:pathology*; D014564:Urogenital Abnormalities / Q000235:genetics
keywords: Potter syndrome; abnormal hair pattern; amniotic fluid leakage; arthrogryposis; attempted termination of pregnancy; chorionic villus sampling (CVS) compression; deformation; dimple; excess skin; large ears; male excess; multiple congenital anomalies; multiple congenital contractures; oligohydramnios; pulmonary hypoplasia; redundant skin; renal agenesis; uterine anomaly; webbing