Roberts syndrome: a review of 100 cases and a new rating system for severity.

doi:10.1002/ajmg.1320470735

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Article

Roberts syndrome: a review of 100 cases and a new rating system for severity.

American journal of medical genetics - 15 Nov 1993

Van Den Berg D J, Francke U

Abstract excerpt

Roberts syndrome (RS) is a rare genetic disorder characterized by pre- and postnatal growth retardation, limb defects, and craniofacial anomalies. Affected persons have varying degrees of malformations involving symmetric reduction in the number of digits, and length or presence of bones in the a...

Topics

Abnormalities, Multiple
Facial Bones
Female
Growth Disorders
Humans
Limb Deformities, Congenital
Male
Mitosis
Mutation
Pedigree
Phenotype
Skull
Syndrome

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