Congenital contractures, short stature, abnormal face, microcephaly, scoliosis, hip dislocation, and severe psychomotor retardation in two unrelated girls. a new MCA/MR syndrome?
Severe mental retardation, congenital contractures, short stature, microcephaly, ptosis, myopia, beaked nose, abnormal teeth, hip dislocation, and severe scoliosis, are described in a 16-year-old and an unrelated 24-year-old females. Results of all laboratory investigations were normal. Review of the literature, of the London Dysmorphology Data Base and POSSUM did not yield to any diagnosis. Whether these patients present a new MCA/MR syndrome is discussed.
Mégarbané
A
A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
Ghanem
I
I
Romana
S
S
Gosset
P
P
Caillaud
C
C
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D001827:Body Height; D003286:Contracture / Q000151:congenital*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006617:Hip Dislocation / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008831:Microcephaly / Q000473:pathology*; D011597:Psychomotor Performance; D012600:Scoliosis / Q000473:pathology*; D013577:Syndrome