Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population.

doi:10.1002/ajmg.a.31976

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Article

Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population.

American journal of medical genetics. Part A - 15 Dec 2007

Erickson Robert P, Bodensteiner John B

Abstract excerpt

We describe four patients, two pairs of siblings, with a somewhat unique oro-facial-digital syndrome. The siblings come from the Navajo population which has undergone several genetic "bottlenecks." Thus, as would be anticipated, this syndrome seems to show autosomal recessive inheritance. The combination of the presence of retinal colobomata and the paucity of digital findings in these patients leads us to...

Topics

Abnormalities, Multiple
Adolescent
Alleles
Child
Face
Facies
Family Health
Female
Humans
Indians, North American
Male
Microcephaly
Orofaciodigital Syndromes
Population Groups
Syndrome

Source

Open in PubMed

Identifiers

PMID: 18000902
DOI: 10.1002/ajmg.a.31976

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