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New syndrome of mental retardation, Robin sequence, and brachydactyly

Gurrieri, F; Steindl, K; Giglio, S; Neri, G (2001). New syndrome of mental retardation, Robin sequence, and brachydactyly. American Journal of Medical Genetics. Part A, 100(1):49-51.

Abstract

We report on two sibs, brother and sister, affected with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome, characterized by mild to moderate psychomotor delay, Robin sequence, peculiar facial appearance, and brachydactyly. To our knowledge, this combination of anomalies has not been reported previously. The occurrence of a similar pattern of anomalies in brother and sister suggests autosomal recessive inheritance; however, dominant transmission with reduced penetrance cannot be ruled out in our patients, since minor clinical signs, such as brachydactyly, are also present in the father.

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Language:English
Date:15 April 2001
Deposited On:25 Nov 2020 17:28
Last Modified:05 Jun 2025 03:42
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:1552-4825
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/1096-8628(20010415)100:1<49::aid-ajmg1213>3.0.co;2-v
PubMed ID:11337748

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