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[Prenatal phenotype and genetic analysis of two fetuses with Osteocraniostenosis due to variants of FAM111A gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2026

Zhang Lingyi, Zhang Zhigang, Wang Xingguang, Li Yanyan

Abstract excerpt

OBJECTIVE: To investigate the prenatal manifestation and genetic basis for two fetuses suspected for Osteocraniostenosis (OCS). METHODS: Two fetuses undergoing invasive prenatal diagnosis at Cangzhou People's Hospital in April and August 2021 for short long bones and abnormal skull morphology were selected as the study subjects. Clinical data were collected and analyzed. Genomic DNA was extracted from amniotic...

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Bone Diseases, Developmental
Craniofacial Abnormalities
Fetus
Phenotype
Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

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Identifiers

PMID: 41663299
DOI: 10.3760/cma.j.cn511374-20251030-00635

Genes

FAM111A

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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