A case of atelosteogenesis.
Atelosteogenesis is a rare chondrodysplasia characterised by rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations, talipes equinovarus, and early death. The diagnosis is confirmed radiologically: short, distally tapering humeri, absent or hypoplastic fibulae, deficient vertebral ossification with coronal clefting, and anarchic ossification of phalanges are characteristic findings. We report a male child with this condition born to first cousin Bengali parents.
Temple
K
K
Department of Clinical Genetics, Hospitals for Sick Children, London.
Hall
C A
CA
Chitty
L
L
Baraitser
M
M
D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging; D003241:Consanguinity; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging