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Article

Clinical and molecular characterization of four patients with Robinow syndrome from different families.

American journal of medical genetics. Part A - 1 Apr 2021

Rai Archana, Patil Siddaramappa J, Srivastava Priyanka, Gaurishankar Kalpana, Phadke Shubha R

Abstract excerpt

Robinow syndrome (RS) is a rare heterogeneous disorder characterized by short stature, short-limbs, craniofacial, oro-dental abnormalities, vertebral segmentation defects, and frequently genital hypoplasia. Both autosomal dominant and recessive patterns of inheritance are observed with many causative genes. Here, we present the phenotypes and genotypes of four children with RS from different Indian families....

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Identifiers

PMID: 33496066
DOI: 10.1002/ajmg.a.62082

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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