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A case of atelosteogenesis

Temple, K; Hall, CA; Chitty, L; Baraitser, M; (1990) A case of atelosteogenesis. J.Med.Genet. , 27 (3) pp. 194-197.

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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

Type: Article
Title: A case of atelosteogenesis
Additional information: DA - 19900515IS - 0022-2593 (Print)LA - engPT - Case ReportsPT - Journal ArticleSB - IM
Keywords: abnormalities, Adult, Bone Diseases, Developmental, Child, Consanguinity, diagnosis, Female, genetics, Humans, Infant, Newborn, Leg, London, Male, radiography, Skull, Spine
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health
URI: http://discovery.ucl.ac.uk/id/eprint/137680
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