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Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?

作者信息

Mattei J F, Aymé S

出版信息

J Med Genet. 1983 Dec;20(6):433-5. doi: 10.1136/jmg.20.6.433.

Abstract

Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third metacarpal, median cleft lip, fatty hamartomas on the dorsum of the tongue, conductive hearing loss, and unilateral or bilateral renal agenesis. This probably autosomal recessive syndrome could be a further example of the condition described by Váradi et al or a variant of the Mohr syndrome.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9cab/1049175/900397e2a680/jmedgene00110-0035-a.jpg

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