Table 1

Clinical features of our case compared to published data

	1q32.3-q42²	1q32-q42^3,⁴	1q32-qter^12–¹⁵	1q32.16-42.1*	SRS features^9,¹⁰
* = present case, + = presence of a symptom, − = absence of a symptom, ? = absent or not mentioned.
Young gestational age	-	2/2	0/4	+	+
Wide sutures and fontanelles	?	1/1	4/4	+	+
Postnatal growth retardation	+	2/2	1/1	+	+
Asymmetry	+	1/1	?	+	+
Relative macrocephaly	-	0/2	2/2	+	+
Prominent/wide forehead	-	2/2	3/4	+	+
Downturned mouth corners	?	?	?	+	+
Triangular face	?	?	2/2	+	+
Broad, flat nasal bridge	-	1/2	3/4	+	?
Low set ears/ear anomalies	-	1/2	4/4	-	+
Cryptorchidism/small testes	+	1/2	3/3	+	+
Abnormal fingers or toes or both	+	2/2	4/4	+	+
Psychomotor/mental retardation	+	2/2	2/4	+	+
Spine defects	+	1/2	?	+	+