Geleophysic dysplasia.
We describe 2 children with geleophasic dysplasia. Prominent cardiac disease in one of the patients caused death at an early age. The history of consanguinity in one of the families supports autosomal recessive mode of inheritance. Histological and ultrastructural changes suggest that a disturbance in the relations between cell membrane and extracellular matrix may be involved in the pathogenesis.
Wraith
J E
JE
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Victoria, Australia.
Bankier
A
A
Chow
C W
CW
Danks
D M
DM
Sardharwalla
I B
IB
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D003241:Consanguinity; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis; D007223:Infant; D008099:Liver / Q000473:pathology; D008297:Male