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Case Reports in Genetics
Volume 2011 (2011), Article ID 839650, 4 pages
http://dx.doi.org/10.1155/2011/839650
Case Report

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Center (APC), Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh 160012, India

Received 6 July 2011; Accepted 27 July 2011

Academic Editor: A. Sazci

Copyright © 2011 Sheetal Sharda et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.