Features | Published reports | Patient 1 | Patient 2 |
Sex | 9 male/8 female | F | F |
Height <3rd centile | 12/171-150 | + | + |
Proportionate short stature | 2/151-151 | − | − |
Disproportionate short stature | + | + | |
Microtia | 17/17 | + | + |
Absent or hypoplastic patellae | 11/171-152 | + | + |
Early closure or prominent cranial sutures | 6/171-153 | − | + |
Clitoromegaly | 3/8 | + | − |
Breast hypoplasia1-154 | + | + |
↵1-150 Height >3rd centile was noted in three patients; in two patients height was not reported.
↵1-151 Seven other reported patients had proportionate short stature. However, span measurements were not reported.
↵1-152 Three other patients had normal patellae.
↵1-153 Three patients had normal sutures; no information on the other eight patients.
↵1-154 One patient had small breasts, seven of nine female patients were too young to notice breast hypoplasia.