Intrafamilial variability in cleidocranial dysplasia: a three generation family.

doi:10.1002/ajmg.1320420307

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Article

Intrafamilial variability in cleidocranial dysplasia: a three generation family.

American journal of medical genetics - 1 Feb 1992

Chitayat D, Hodgkinson K A, Azouz E M

Abstract excerpt

We present a 3-generation family, ascertained after the birth of a child with cleidocranial dysplasia (CCD). The propositus presented with respiratory distress (due to a narrow thorax) and hypoplasia and discontinuity of both clavicles. The mother, aunt, and grandmother had varied features of the...

Topics

Abnormalities, Multiple
Adolescent
Adult
Cleidocranial Dysplasia
Female
Genetic Variation
Humans
Infant
Middle Aged
Mutation
Pedigree
Phenotype

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