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

Case Rep Genet

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

Published: October 2012

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447232PMC
http://dx.doi.org/10.1155/2011/839650DOI Listing

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