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 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.
Kantaputra
P N
PN
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand. dnpdi001@chiangmai.ac.th
Kunachaichote
J
J
Patikulsila
P
P
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D009765:Obesity / Q000235:genetics* / Q000473:pathology; D011378:Prognathism / Q000235:genetics* / Q000473:pathology; D012868:Skin Abnormalities / Q000235:genetics* / Q000473:pathology; D013577:Syndrome