title: A case of atelosteogenesis.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Hospitals for Sick Children, London.
authors.forename: K
authors.initials: K
authors.lastname: Temple
authors.forename: C A
authors.initials: CA
authors.lastname: Hall
authors.forename: L
authors.initials: L
authors.lastname: Chitty
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
mesh_terms: 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