3M Syndrome: An Easily Recognizable yet Underdiagnosed Cause of Proportionate Short Stature - 23/06/12
, Muneera Al-Shammari, MD 1, 3, , Ranad Shaheen, PhD 1, , Eissa Faqeih, MD 4, Mohammed A. AlGhofely, MD 4, Ahmad Boukai, MD 5, Fowzan S. Alkuraya, MD 1, 3, 6, ⁎ 
Reprint requests: Fowzan S. Alkuraya, MD, Head, Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC 03, PO Box 3354, Riyadh 11211 Saudi Arabia.Abstract |
Objective |
To 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 design |
We conducted a case series of patients referred to clinical genetics for proportionate short stature. CUL7, OBSL1, and CCDC8 genes were clinically phenotyped and sequenced.
Results |
In 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.
Conclusion |
Increased awareness about this syndrome among pediatricians and endocrinologists is needed to avoid a costly and unnecessary diagnostic odyssey.
Le texte complet de cet article est disponible en PDF.Mots-clés : cDNA, IGF, PCR, PD
Plan
| Funded by King Abdulaziz City for Science and Technology (grant 09-MED941-20) and a Dubai Harvard Foundation of Medical Research Collaborative Grant (to F.A.). The authors declare no conflicts of interest. |
Vol 161 - N° 1
P. 139 - juillet 2012 Retour au numéro
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