Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.

doi:10.1111/j.1741-4520.2012.00384.x

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Article

Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.

Congenital anomalies - 1 Dec 2013

Shimojima Keiko, Shimada Shino, Sugawara Midori, Yoshikawa Naomi, Niijima Shinichi, Urao Masahiko, Yamamoto Toshiyuki

Abstract excerpt

Oral-facial-digital syndrome type 1 (OFD1; MIM 311200) is characterized by multiple anomalies of the oral cavity, face and digits. We report a family with OFD1, where two female siblings and their mother shared the same mutation of the responsible gene (OFD1) c.1193_1196delAATC. Phenotypic variability was observed among them; the mother showed minimal features of OFD1, whereas her two daughters showed partial...

Topics

Adult
Brain
Child, Preschool
DNA Mutational Analysis
Facies
Family
Female
Genetic Counseling
Heterozygote
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Magnetic Resonance Imaging

Mutation

Orofaciodigital Syndromes

Pedigree

Phenotype

Pregnancy

Source

Open in PubMed

Identifiers

PMID: 24712474
DOI: 10.1111/j.1741-4520.2012.00384.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-24712474-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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