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Article

Renpenning syndrome in an Indian patient.

American journal of medical genetics. Part A - 1 Feb 2020

Masih Suzena, Moirangthem Amita, Phadke Shubha R

Abstract excerpt

Renpenning syndrome is one of the well-characterized causes of X-linked intellectual disability and is associated with microcephaly and various visceral malformations. Face is considered characteristic but the dysmorphism is subtle. Here we report an Indian adult with a very lean habitus, progressive atrophy of the upper back muscles, microcephaly, loss of cervical lordosis, and upper thoracic scoliosis. Using...

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Identifiers

PMID: 31840915
DOI: 10.1002/ajmg.a.61457

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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