"Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum.

doi:10.1002/ajmg.1320470322

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Article

"Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum.

American journal of medical genetics - 1 Sept 1993

Lurie I W, Wulfsberg E A

Abstract excerpt

Analysis of familial cases of the so called "holoprosencephaly-polydactyly" ("pseudotrisomy 13") syndrome shows that neither holoprosencephaly, nor polydactyly are obligatory manifestations of this condition. This review of previous case reports shows that each of these anomalies is only found in...

Topics

Abnormalities, Multiple
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 13
Holoprosencephaly
Humans
Infant, Newborn
Phenotype
Polydactyly
Syndrome
Trisomy

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