Case report 870. Schneckenbecken dysplasia, possibly a new variant.
We report the case of a newborn with a lethal newborn skeletal dysplasia, in whom skeletal and morphologic findings resembled those in schneckenbecken dysplasia except that the projection of bone from the medial aspect of the iliac bones, resembling the "snail's" head, was absent. This could be accounted for by variability or genetic heterogeneity.
Sillence
D
D
Department of Genetics, Children's Hospital, Camperdown, New South Wales, Australia.
Delprado
W
W
Edwards
M
M
Kozlowski
K
K
D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006132:Growth Plate / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000151:congenital / Q000000981:diagnostic imaging* / Q000473:pathology; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography