Temple, K and Hall, CA and Chitty, L and Baraitser, M (1990) A case of atelosteogenesis. J.Med.Genet. , 27 (3) 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 > Faculty of Population Health Sciences > Institute of Child Health |
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