Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome

Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome

We report two daughters of a Thai family affected with mental retardation, delayed speech, obesity, craniofacial manifestations, and ocular anomalies. Craniofacial manifestations included macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Ocular anomalies consisted of...

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Main Authors: Kantaputra P.N., Kunachaichote J., Patikulsila P.
Format: Article
Language:English
Published: 2014
Online Access:http://www.scopus.com/inward/record.url?eid=2-s2.0-0035500257&partnerID=40&md5=86393f87b9838665c40f12c10023bbd8
http://www.ncbi.nlm.nih.gov/pubmed/11746007
http://cmuir.cmu.ac.th/handle/6653943832/3451
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spelling th-cmuir.6653943832-34512014-08-30T02:26:08Z Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome Kantaputra P.N. Kunachaichote J. Patikulsila P. We report two daughters of a Thai family affected with mental retardation, delayed speech, obesity, craniofacial manifestations, and ocular anomalies. Craniofacial manifestations included macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Ocular anomalies consisted of blepharophimosis, blepharoptosis, decreased visual acuity, abducens palsy, hyperopic astigmatism, and accommodative esotropia. Chronic atopic dermatitis, lateral deviation of the great toes, and cone-shaped epiphyses of the toes were observed. The disorder is suggested to be autosomal recessive. The combination of findings found in our patients has not hitherto been described. © 2001 Wiley-Liss, Inc. 2014-08-30T02:26:08Z 2014-08-30T02:26:08Z 2001 Article 01487299 10.1002/ajmg.1572 11746007 AJMGD http://www.scopus.com/inward/record.url?eid=2-s2.0-0035500257&partnerID=40&md5=86393f87b9838665c40f12c10023bbd8 http://www.ncbi.nlm.nih.gov/pubmed/11746007 http://cmuir.cmu.ac.th/handle/6653943832/3451 English
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
language English
description We report two daughters of a Thai family affected with mental retardation, delayed speech, obesity, craniofacial manifestations, and ocular anomalies. Craniofacial manifestations included macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Ocular anomalies consisted of blepharophimosis, blepharoptosis, decreased visual acuity, abducens palsy, hyperopic astigmatism, and accommodative esotropia. Chronic atopic dermatitis, lateral deviation of the great toes, and cone-shaped epiphyses of the toes were observed. The disorder is suggested to be autosomal recessive. The combination of findings found in our patients has not hitherto been described. © 2001 Wiley-Liss, Inc.
format Article
author Kantaputra P.N.
Kunachaichote J.
Patikulsila P.
spellingShingle Kantaputra P.N.
Kunachaichote J.
Patikulsila P.
Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome
author_facet Kantaputra P.N.
Kunachaichote J.
Patikulsila P.
author_sort Kantaputra P.N.
title Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome
title_short Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome
title_full Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome
title_fullStr Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome
title_full_unstemmed Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome
title_sort mental retardation, obesity, mandibular prognathism with eye and skin anomalies (momes syndrome): a newly recognized autosomal recessive syndrome
publishDate 2014
url http://www.scopus.com/inward/record.url?eid=2-s2.0-0035500257&partnerID=40&md5=86393f87b9838665c40f12c10023bbd8
http://www.ncbi.nlm.nih.gov/pubmed/11746007
http://cmuir.cmu.ac.th/handle/6653943832/3451
_version_ 1681420050612879360

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