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Article

A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.

Journal of human genetics - 1 Jan 2007

Kondoh T, Okamoto N, Norimatsu N, Uetani M, Nishimura G, Moriuchi H

Abstract excerpt

We report the case of a 12 year-old boy with oto-palato-digital syndrome type II (OPD II). He had various anomalies at birth, including bilateral cataracts, bilateral glaucoma, bilateral severe hearing impairment, congenital heart defect, umbilical herniation, bowed extremities and constrictions of various joints. These clinical features and whole body X-ray findings were compatible with OPD II. However, his...

Topics

Abnormalities, Multiple
Child
Contractile Proteins
Filamins
Fingers
Genotype
Hearing Loss, Bilateral
Humans
Karyotyping
Male
Microfilament Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Palate

Phenotype

Syndrome

Source

Identifiers

PMID: 17264970
DOI: 10.1007/s10038-007-0108-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-17264970-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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