Table 2.

Phenotypes of family members

	I.1 (mother)	II.3 (sister)	II.1 (proband)
Facial features			flattened face, wide nasal bridge
Dental status	?	?	multiple supernumerary teeth
Enlarged fontanelle	−	+	+
Clavicles	hypoplasia	aplasia	aplasia
Other features		dislocation of left hip, short stature	varus of right hip joint (coxa vara), short stature