3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.
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.


METHODS
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.


CONCLUSIONS
Increased awareness about this syndrome among pediatricians and endocrinologists is needed to avoid a costly and unnecessary diagnostic odyssey.
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Mohammed S
MS
Al-Dosari
Muneera
M
Al-Shammari
Ranad
R
Shaheen
Eissa
E
Faqeih
Mohammed A
MA
Alghofely
Ahmad
A
Boukai
Fowzan S
FS
Alkuraya
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis*; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications* / Q000175:diagnosis*; D013131:Spine / Q000002:abnormalities