Table 4.

Shprintzen-Goldberg Syndrome Symptoms, a literature review 1981–2008.

1981–2008	[26] Stheneur 2008	[25] Kosaki 2006	[25] Kosaki 2007	[24] Robinson 2005	[24] Robinson 2005	[24] Robinson 2005	[24] Robinson 2005	[24] Robinson 2005	[24] Robinson 2005	[24] Robinson 2005	[24] Robinson 2005	[24] Robinson 2005	[24] Robinson 2005	[24] Robinson 2005	[24] Robinson 2005	[24] Robinson 2005	[24] Robinson 2005	[23] Greally 1998	[23] Greally 1998	[23] Greally 1998	[23] Greally 1998	[23] Greally 1998	[21] Shprinzten and Goldberg 1991	[21] Shprinzten and Goldberg 1991	[20] Sugarman, Vogel 1981
Age (years)	17			17	21	6	4	2	17	10	6	2	7	25	16	17	16	12	12	12	5	∼6			17
Sex	M	M	M	M	M	M	M	F	M	M	M	M	M	M	M	M	M	F	M	M	M	F	M	M	M
Craniofacial
Lack of dura mater
Craniosynostosis	+	+	+						+	−	−	+	−		+		+	+	−	+	+		+	+	+
Dolicocephaly		+	+	+	+	+	+	+	−	+	+	+	+	+	−	−	+	+	+		+
Scaphocephaly
Hypertelorism	+	+	+	+		+	−	+	+	+	+	−	+	+	−	−	−				+	+	+	+
Downslanting palpebral fissures		+	+	−	−	+	+	+	−	+	+	+	+	+	+	+	+	+			+		+	+
Proptosis		+	+	+	+	+	−		+	+	+	+	+		+	+	+				+	+	+	+
Low set ears		+	+																+		+	+	+	+
High/narrow palate		+	+	+*	+	+*	+	+	+	+	+	+	+	+	+	+	+	+			+	+	+	+
Chiari malformation
Micro/retrognathia	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	−	+	+	+	+	+	+	+
Skeletal
Cervical spine abnormalities																		+		+
Arachnodactlyly		+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+		+	+		+	+	+
Camptodactyly				−	−	+	−	−	+		+	+	−	+	−	+	−		+	+		+	+	+
Scoliosis/kyphosis		+	+	+	+	+	+		+	−	+	+	−	+	+	+	+	+	+	+		−	+	+
Pectus deformiity		+	+	+	+	+	+	+	+	+	+	+		+	+	+	+			+	+	+	+	+
Joint hypermobility			+	+	+	+	+	+	+		+	+			+		+
Foot malposition		+	+															+	+	+	+
Joint contracture		+	+															−	+	+	+
Neurological
Developmental delay	+	+	+	+	+	+	+	−	+	+	+	+	+	+	+	+	+		+	+	−	+	+	+	+
Intellectual disability				+	+	+	−			+	++			+					+	+	−		+	+	+
Cardiovascular
Mitral valve prolapse				−	+	+	−		+	−	+	−		−	−		−		−			+		+
Aortic dilatation		+	+	−	−	+	+		+	−	+	−		−	−		−		−
Obstructive apnea					−	−	−	−	+		+	+					−						+
Other																				+
Hearing loss									+	+	+
Inguinal hernia			+	+	+	−	+	−	+		+	−		−	+	+	+					+	+	+	+
Umbilical hernia				+	−	−	+	−	−		+	−					−						+	+	+
Hypotonia				++	−	+			+	+	++	+	+	+	+	+	+			+					+
Dural ectasia

‘+’ − present; ‘++’ − severe; ‘−‘ − absent; blank − no information; ‘^*’ − cleft lip.