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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.

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.

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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:26 Nov 2020 21:00
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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