Mucolipidosis III and Bardet-Biedl syndrome in the same family: diagnostic pitfalls.
Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental.
Gordon
C R
CR
Department of Neurology, Beilinson Medical Center, Petah Tiqva, Israel.
Bar-Ziv
Y
Y
Frydman
M
M
Zlotogora
J
J
Gadoth
N
N
D003241:Consanguinity; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009081:Mucolipidoses / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009765:Obesity / Q000235:genetics; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics; D013577:Syndrome