title: Autopsy observations in lethal short-rib polydactyly syndromes.
abstract: The short rib-polydactyly syndromes are a heterogeneous group of lethal autosomal recessive disorders (SRP I-IV), which result from cellular ciliary dysfunction during embryogenesis. Diagnosis is conventionally based on radiographic imaging. Since 1976, postmortem investigations of 5 affected fetuses or stillbirths have been undertaken and the visceral abnormalities have been documented. These anomalies are discussed in the context of prenatal differential diagnosis and prognostication following imaging in pregnancy and at autopsy following miscarriage or stillbirth.
authors.affiliation: 1 Division of Anatomical Pathology, Faculty of Health Sciences, University of Cape Town, Observatory, 7925 Cape Town, South Africa.
authors.forename: Patricia
authors.initials: P
authors.lastname: Okiro
authors.forename: Helen
authors.initials: H
authors.lastname: Wainwright
authors.forename: Jürgen
authors.initials: J
authors.lastname: Spranger
authors.forename: Peter
authors.initials: P
authors.lastname: Beighton
mesh_terms: D001344:Autopsy / Q000379:methods*; D001842:Bone and Bones / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005313:Fetal Death; D006801:Humans; D007668:Kidney / Q000473:pathology; D008099:Liver / Q000473:pathology; D010179:Pancreas / Q000473:pathology; D017689:Polydactyly / Q000150:complications / Q000175:diagnosis; D011247:Pregnancy; D011859:Radiography; D012779:Short Rib-Polydactyly Syndrome / Q000000981:diagnostic imaging* / Q000401:mortality*; D050497:Stillbirth; D051598:Whole Body Imaging
keywords: autopsy; genetics; polydactyly; skeletal