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Article

Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.

American journal of medical genetics. Part A - 15 Jun 2005

Tan Tiong Yang, McGillivray George, Kornman Louise, Fink A Michelle, Superti-Furga Andrea, Bonafé Luisa, Francis David I, Savarirayan Ravi

Abstract excerpt

Autosomal recessive omodysplasia (ARO), a rare congenital skeletal dysplasia, is characterized by micromelia and craniofacial anomalies. Upper and lower limbs are affected in contrast to the dominant form in which the lower limbs are normal. Radiographic features include shortening and distal tapering of the humerus and femur, proximal radioulnar diastasis, and anterolateral radial head dislocation. We present a...

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Identifiers

PMID: 15887278
DOI: 10.1002/ajmg.a.30754

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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