Table I. Prevalence of features in the literature and our cohort.

P – proband; AB – affected brother; PC – paternal cousin; S – sister; CDL # – Cornelia de Lange study number; IUGR – intrauterine growth retardation; SGA – small for gestational age; HEENT – head, ears, eyes, nose, throat; GU – genitourinary. (x/x) denotes individuals noted to have characteristic when feature is cited in report.

Feature Gender	Literature	1P Male	1AB Male	1PC Female	2P Male	2S Female	3P Female	4P Male	5P Female	6P Female	7P Male	8P Female	9P Male	10P Male	11P Male	12P Female
General
IUGR/SGA	33/67	-	+	+			-					+			+	+
Failure to Thrive	38/45	+	+								+			+	+
Developmental Delay	57/75	+	+	-	+	+		+	+	+	+		+		+	+
Cognitive Delay	42/45	+								+	+				+	+
Hypotonia	38/42	+						+			+				+
Short Stature	25/38				+	+					+	+				+
Hypertrichosis	70/75						+			+		+
Microcephaly	31/54											+			+	+
HEENT
Craniofacial abnormalities	4/4										+	+	+
Vision problems	19/27										+	-		+
Ptosis	17/28	+	-								-	-		+		+
Hearing loss	8/21	+									+	+	-	+
Ear anomalies	33/42	+	+	+			-				+	+	-	+	+
Periorbital fullness	8/8
Tear duct anomalies	6/18													+
Cleft Palate	9/31	-	-	-	-	-	-	-	-	-		-		-
High palate	19/25		+				+					-		+
Dental anomalies	23/24						-	+	+		+	+	+	+		+
Sparse Scalp Hair	48/70	+	+	+		+		+			+	+
Low Posterior Hairline	5/6							-				+	+	+
Facial Features
Long eyelashes	23/25	+	+	+			+	+		+	+	+	-	+	+	+
Bushy eyebrows	51/66	-	+	+			-		+		+	+	-		+
Depressed nasal bridge	39/51	-	+	+			-	+	+	+		-	-	+
Anteverted nares	7/7	+		+			+					+	+			+
Broad nasal tip/root	38/51	-	-	-			-	+	+					+	+	+
Coarse facies	40/46	-	-	-			-	+		+				+
Wide mouth	52/63	+	-	-			-				+			+		+
Full lip/Thick vermillion	43/56	-	-	-			-		+		+		+	+
Short Philtrum	10/31	-		+				-		+		-
Gastrointestinal
Intestinal ulcer	8/11		-	-								-	-
Intestinal malrotation	2/4											-	-	+
Feeding difficulties	49/59		+	+				+	+			-	+		+	+
Musculoskeletal
Umbilical/Inguinal hernias	15/30		+												+
Delayed Bone Age	19/42
Spinal abnormalities	25/38														+
Hypoplastic fifth finger/toe phalanx/nail	74/80	+	+	+	+	+	+	+	+	+	-		+	+	+	+
Other digit/nail hypoplasia	10/12	+														+
Hyperextensible/lax joints	26/33	+
Other
Recurrent infections	36/45
Renal anomalies	8/28						+					+		+
GU anomalies	15/35	+	+								+	+
Seizures/tics	10/27		+						+			+		+		+
Agenesis of the corpus callosum	7/30													+		+
Dandy-Walker malformation	5/53
Congenital Heart Disease	31/68	+						+						+	+