Kantaputra et al. (2001) reported 2 daughters of a Thai family with mental retardation, obesity, blepharophimosis, blepharoptosis, hyperopic astigmatism, abducens palsy, cone-shaped epiphyses of toes, maxillary hypoplasia, and mandibular prognathism. Chronic atopic dermatitis was also observed. The authors ... Kantaputra et al. (2001) reported 2 daughters of a Thai family with mental retardation, obesity, blepharophimosis, blepharoptosis, hyperopic astigmatism, abducens palsy, cone-shaped epiphyses of toes, maxillary hypoplasia, and mandibular prognathism. Chronic atopic dermatitis was also observed. The authors suggested that these sibs may have a newly recognized autosomal recessive syndrome, which they called MOMES syndrome (mental retardation, obesity, mandibular prognathism with eye and skin anomalies).
Van Haelst et al. (2009) analyzed DNA from the 2 Thai sisters with MOMES syndrome, originally reported by Kantaputra et al. (2001), and identified a 7-Mb deletion of chromosome 4q35.1-qter and a 20-Mb duplication of chromosome 5pter-p14.3 in ... Van Haelst et al. (2009) analyzed DNA from the 2 Thai sisters with MOMES syndrome, originally reported by Kantaputra et al. (2001), and identified a 7-Mb deletion of chromosome 4q35.1-qter and a 20-Mb duplication of chromosome 5pter-p14.3 in both sibs. Analysis of paternal DNA revealed that the father was a carrier of a balanced translocation 46,XY,t(4;5)(q35.1;p14.3).