title: Dyssegmental dysplasia in a South African neonate.
abstract: A female neonate born to nonconsanguineous Zulu parents had dyssegmental dysplasia, Silverman-Handmaker type. This condition has not previously been reported from the continent of Africa. She died at the age of 4 months following the development of pneumonia complicated by an unexplained anaemia.
authors.affiliation: Faculty of Health Sciences, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, Durban Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
authors.forename: William S
authors.initials: WS
authors.lastname: Winship
authors.forename: Peter
authors.initials: P
authors.lastname: Beighton
mesh_terms: D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D005121:Extremities / Q000000981:diagnostic imaging / Q000473:pathology; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D019812:Heparan Sulfate Proteoglycans / Q000235:genetics; D006628:Hirsutism / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D010388:Pelvis / Q000000981:diagnostic imaging / Q000473:pathology; D013902:Radiography, Thoracic; D013019:South Africa; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology; D013909:Thorax / Q000473:pathology
chemical_list: D019812:Heparan Sulfate Proteoglycans; C071927:perlecan