title: Skeletal abnormalities in Meckel syndrome.
abstract: Meckel syndrome is an autosomal recessive condition with a wide phenotypic variation. The most consistent features are cystic kidneys and intrahepatic bile duct anomalies, frequently accompanied by central nervous system (CNS) malformations and polydactyly. Approximately one sixth of all cases also show skeletal anomalies. We present two cases, siblings born to a consanguineous couple, in whom there was a striking curvature and shortening of the long bones in addition to cystic kidneys, CNS abnormalities, and polydactyly. Histological examination of the long bones in the second affected sibling showed mid-diaphysial ectopic cartilaginous growth plates differentiating the long bone changes from other skeletal dysplasias with similar radiological features.
authors.affiliation: Department of Histopathology, St. Mary's Hospital for Women and Children, Manchester, England.
authors.forename: J
authors.initials: J
authors.lastname: Shanks
authors.forename: B
authors.initials: B
authors.lastname: Kerr
authors.forename: S A
authors.initials: SA
authors.lastname: Russell
authors.forename: H
authors.initials: H
authors.lastname: Kingston
authors.forename: L
authors.initials: L
authors.lastname: Moore
mesh_terms: D001653:Bile Ducts, Intrahepatic / Q000002:abnormalities; D001842:Bone and Bones / Q000002:abnormalities*; D004677:Encephalocele / Q000473:pathology; D005260:Female; D005530:Foot Deformities / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D052177:Kidney Diseases, Cystic / Q000473:pathology; D017689:Polydactyly / Q000473:pathology; D011247:Pregnancy; D013577:Syndrome