• Mohammed S Al-Dosari, Muneera Al-Shammari, Ranad Shaheen, Eissa Faqeih, Mohammed A Alghofely, Ahmad Boukai, and Fowzan S Alkuraya.
• Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
• J. Pediatr. 2012 Jul 1;161(1):139-45.e1.

ObjectiveTo characterize, via clinical and molecul criteria, a cohort of patients with 3M syndrome and thereby increase awareness of this syndrome as a recognizable cause of proportionate short stature.Study DesignWe conducted a case series of patients referred to clinical genetics for proportionate short stature. CUL7, OBSL1, and CCDC8 genes were clinically phenotyped and sequenced.ResultsIn 6 Saudi families with 3M syndrome, we identified three CUL7, one OBSL1, and one CCDC8 novel mutations, which we show result in a remarkably similar clinical phenotype. Despite their typical and easily discernible clinical phenotype, all these patients have been extensively investigated for alternative causes of their short stature and received erroneous diagnoses.ConclusionIncreased awareness about this syndrome among pediatricians and endocrinologists is needed to avoid a costly and unnecessary diagnostic odyssey.Copyright © 2012 Mosby, Inc. All rights reserved.

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