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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1990 Mar;27(3):194–197. doi: 10.1136/jmg.27.3.194

A case of atelosteogenesis.

K Temple 1, C A Hall 1, L Chitty 1, M Baraitser 1
PMCID: PMC1017004  PMID: 2325095

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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