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Article

A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma.

Journal of glaucoma - 1 Mar 2020

Ratukondla Banushree, Prakash Sarvesswaran, Reddy Sindhura, Puthuran George V, Kannan Naresh B, Pillai Manju R

Abstract excerpt

Frank Ter Haar syndrome (FTHS) is a rare autosomal recessive disorder with characteristic skeletal, cardiac, ocular, and craniofacial abnormalities. We report a sibling pair presenting with clinical features typical of FTHS, born to consanguineous parents, with a novel mutation in the SH3PXD2B gene on chromosome 5q35.1 that results in premature truncation of the protein encoded. The children presented with...

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Identifiers

PMID: 31809395
DOI: 10.1097/IJG.0000000000001420

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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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