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Article

Prenatal diagnosis and molecular genetic studies on a new case of agnathia-otocephaly.

Fetal and pediatric pathology - 1 Jan 2010

Kamnasaran Deepak, Morin Françoise, Gekas Jean

Abstract excerpt

Otocephaly is a severe and lethal malformation. We report a new case of a fetus with agnathia-otocephaly, presenting only the facial findings but with otherwise normal organs. The fetal karyotype was normal. We examined the fetal DNA for uniparental disomy of chromosomes 3 and 4, since the mother is a carrier of a t(3;4) chromosome, but did not identify any evidence. We were also unable to find mutations or...

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Source

Identifiers

PMID: 20594144
DOI: 10.3109/15513811003796946

Genes

OTX2
PGAP1

Provenance

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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