Table 1

Clinical comparison between our patients and other similar syndromes

	Present report	COFS	CAMFAK	Tomiwa et al⁶	Martsolf et al⁷	Mégarbané et al⁸	Warburg et al²
Severe growth retardation	+	+	+	+	-	+	-
Spasticity	+	-	-	+	-	-	+
Hypotonia	+	+	+	+	+	+	+
Never walked	+	-	+,-	-	-	+	-
Mental retardation	+	+	+	+	+	+	+
Short stature	+	-	-	+	+	+	+
Congenital microcephaly	+	+	+	-	+	+	+
Microphthalmia	+	+	+	-	-	+	+
Congenital cataract	+	+	+	+	-	-	+
Coloboma	-	-	-	-	-	+	-
Optic atrophy	+	-	-	-	-	-	+
Ptosis of eyelids	+	-	-	-	-	-	-
Large ears	-	+	+	-	-	-	+
Abnormal nasal tip/bridge	-	+	+	-	+	-	+
High arched palate	+	-	-	-	+	+	-
Kyphosis	+	-	-	-	-	-	+
Scoliosis	+	-	-	-	+	-	-
Joint laxity	-	-	-	-	+	-	-
Cryptorchidism	+	-	+	-	+	+	+
Dermatoglyphic abn	+	-	-	-	+	+	-
Incurved 5th fingers	+	-	-	-	-	+	-
Ag/hypoplasia of the CC	-/+	+/+	+/+	-/-	-/-	-/-	+/-
Osseous malformations	+,-	-	+	-	-	+	-
Deafness	-	+,-	-	+	-	-	-
Seizures	-	-	-	+	+	+	-