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...

Full description

Saved in:
Bibliographic Details
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/6653943832/1114
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Chiang Mai University
Language: English
id th-cmuir.6653943832-1114
record_format dspace
spelling th-cmuir.6653943832-11142014-08-29T09:17:46Z 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. 2014-08-29T09:17:46Z 2014-08-29T09:17:46Z 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/6653943832/1114 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/6653943832/1114
_version_ 1681419595880071168

Similar Items