Dyssegmental dysplasia in a South African neonate.
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.
Winship
William S
WS
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.
Beighton
Peter
P
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
D019812:Heparan Sulfate Proteoglycans; C071927:perlecan