Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: previously undescribed MCA/MR syndrome.
Author: Mégarbané A, Ruchoux MM, Loeys B, Ayoub N, Nuytinck L.
Source:
American journal of medical genetics, 104(3), 221-224.
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