| Literature DB >> 2918527 |
R C Hennekam1, C Vermeulen-Meiners.
Abstract
A boy with intrauterine growth retardation, microcephaly, dysostosis of the skull, hypoplastic facial bones, labiogingival retraction, agenesis of the clavicles, distal aphalangia, and severely hypoplastic thumbs and halluces is described. The features are consistent with the Yunis-Varon syndrome. Review of published reports shows this to be a generalised disorder with variable manifestations in the skeletal, ectodermal, and cardiovascular systems. The consanguinity of the parents of the present case is in agreement with autosomal recessive inheritance.Entities:
Mesh:
Year: 1989 PMID: 2918527 PMCID: PMC1015538 DOI: 10.1136/jmg.26.1.55
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318