Table 3.

Clinical Manifestations of Some Well-Known X-Linked MR Syndromes, Compared with Those Seen in the Present Study

	Findings in the Present Study and Characteristics of X-Linked MR Syndromes
Clinical Manifestation	Present Report	BFLS	Coffin-Lowry	Simpson-Golabi	Atkin	Baraitser
MR	Moderate	Severe	Severe	Variable	Moderate-severe	Moderate
Head size	Normal	Microcephalic	Microcephalic/normal	Macrocephalic	Macrocephalic	Macrocephalic
Hypertelorism	Absent	Absent	Present	Present	Present	Absent
Diastema	Absent	Absent	Absent	Absent	Present	Present
Narrow eyes	Present	Absent	Absent	Absent	Absent	Absent
Supraorbital ridges	Prominent	Prominent	Prominent	Not prominent	Prominent	Prominent
Thick lower lip	Present	Absent	Present	Variable	Present	Present
Large ears	Present	Present	Absent	Absent	Present	Present
Obesity	Present	Present	Absent	Absent	Present	Present
Heart defect	Absent	Absent	Present	Present	Absent	Absent
Testes	Large	Undescended/small	Undescended/small	Undescended/small	Large	Large
Stature	Normal	Short	Short	Normal to tall	Short	Normal
Skeletal radiographs	Normal	Abnormal	Abnormal	Abnormal	Normal	Not available
Mapping	Xq26	Xq26-q27	Xp22.1-p22.2	Xq26	Unknown	Unknown