Robinow Syndrome Without Mesomelic 'brachymelia': a Report of Five Cases

Overview

Journal J Med Genet

Specialty Genetics

Date 1986 Aug 1

PMID 3746837

Citations 10

Authors

M D Bain

R M Winter

J Burn

Affiliations

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Abstract

A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or dwarfism. Two further sporadic cases are described, one with rhizomelic brachymelia and dwarfism and the other with generalised shortening of the limbs. An attempt is also made to distinguish between the phenotype of autosomal dominant and recessive cases on the basis of the familial cases in this paper and other reported cases.

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Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.

Yang K, Zhu J, Tan Y, Sun X, Zhao H, Tang G J Clin Lab Anal. 2019; 34(2):e23074.

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Robinow Syndrome: A Rare Case Report and Review of Literature.

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Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Bunn K, Daniel P, Rosken H, ONeill A, Cameron-Christie S, Morgan T Am J Hum Genet. 2015; 96(4):623-30.

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References

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