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Article

Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.

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

Seto Mimi Tin-Yan, Bertoli-Avella Aida M, Cheung Ka Wang, Chan Kelvin Yuen-Kwong, Yeung Kit San, Fung Jasmine Lee-Fong, Beetz Christian, Bauer Peter, Luk Ho Ming, Lo Ivan Fai-Man, Lee Chin Peng, Chung Brian Hon-Yin, Kan Anita Sik-Yau

Abstract excerpt

Schuurs-Hoeijmakers syndrome (SHS) is a rare syndrome involving a de novo variant in the PACS1 gene on chromosome 11q13. There are 36 individuals published in the literature so far, mostly diagnosed postnatally (34/36) after recognizing the typical facial features co-occurring with developmental delay, intellectual disability, and multiple malformations. Herein, we present one prenatal and 15 postnatal cases with...

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Identifiers

PMID: 33166031
DOI: 10.1002/ajmg.a.61964

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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