Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: previously undescribed MCA/MR syndrome.
We describe two brothers with severe psychomotor retardation, short stature, microbrachycephaly, flat occiput, ptosis, low set and prominent ears, "beaked" nose, joint hyperlaxity and dislocation, hernias, delayed bone age, and abnormalities on skin biopsy. Their parents are first cousins. To the best of our knowledge, this syndrome has not been reported before.
Mégarbané
A
A
Unité de Génétique Médicale Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
Ruchoux
M M
MM
Loeys
B
B
Ayoub
N
N
Nuytinck
L
L
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005192:Family Health; D006130:Growth Disorders / Q000473:pathology*; D006547:Hernia; D006801:Humans; D004204:Joint Dislocations; D007593:Joint Instability; D007596:Joints / Q000002:abnormalities; D008297:Male; D011596:Psychomotor Disorders / Q000473:pathology*; D013577:Syndrome