Research view
| Title: | Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: previously undescribed MCA/MR syndrome. |
| Author: | M?garban? A, Ruchoux MM, Loeys B, Ayoub N, Nuytinck L. |
| Abstract: |
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 bi
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| Journal: | Am J Med Genet. 2001 Dec 1;104(3):221-4. |