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Article

[Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Oct 2020

Liang Yan-Ting, Jiang Hui-Yun, Fu Hua-Yu

Abstract excerpt

A boy, aged 1 month, attended the hospital due to feeding difficulty and hypotonia. He had unusual facial features (prominent forehead, hypertelorism, ptosis of the lateral canthus, thin upper lip, and low-set ears), hypotonia, and a decreased score of neonatal behavioral neurological assessment. Heart ultrasound showed atrial septal defect. Cranial MRI showed widened supratentorial ventricle, cerebral cistern,...

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Identifiers

PMID: 33059814
PMCID: PMC7568997

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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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