TABLE I.

Clinical Findings of the Patients

	Family HOU2001, BAB5033	Family HOU2034			Family HOU2085
		BAB5141	BAB5142	BAB5143	BAB5348	BAB5349
General
Age at evaluation	12	14	12	7	42	37
Gender	Male	Male	Male	Female	Male	Male
Consanguinity	+	+	+	+	+	+
Growth retardation	+	+	+	+	+	+
Delayed bone age	+	+	+	+	+	+
Craniofacial
Alopecia	+	+	+	+	+	+
Relative macrocephaly	+	+	+	+	+	+
Delayed closure of anterior fontanel	+	+	+	+	n.d.	n.d.
Frontal bossing	+	+	+	+	+	+
Low set and protruding ears	+	+	+	+	+	+
Hypertelorism	+	+	+	+	+	+
Thickened eyelids	+	+	+	+	+	+
Sparse eyebrows and eyelashes	+	+	+	+	+	+
Optic atrophy	n.d.	−	+	n.d.	−	−
Glaucoma	+	−	−	+	+	+
Myelinated nerve fiber layer	−	+	+	−	n.d.	n.d.
Keratopathy	+	−	−	+	−	+
Depressed nasal bridge	+	+	+	+	+	+
Short nose, anteverted nares	+	+	+	+	+	−
Long philtrum	+	+	+	+	+	+
Thick, full lips	+	+	+	+	+	+
Pseudoanodontia	+	+	+	+	+	+
Micrognathia	+	+	+	+	+	+
Other
Breast and nipple hypoplasia	+	+	+	+	n.d.	n.d.
Umblical hernia	+	+	+	−	n.d.	n.d.
Hepatomegaly	+	−	−	−	n.d.	n.d.

n.d., not documented.