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[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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Abnormalities, Multiple
Craniofacial Abnormalities
Heart Septal Defects, Atrial
Infant
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33059814
PMCID: PMC7568997

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