. 2019 Aug 8;20:1159–1169. doi: 10.12659/AJCR.914924

Table 5.

Imaging results and treatment interventions for Shprintzen-Goldberg syndrome patients, a literature review 1981–2019.

Test Performed	Results	[44] O’Dougherty 2019	[43] Zhang 2019	[7] Kimura 2018	[42] Saito 2017	[40] Minocha 2016	[6] Poninska 2016	[39] Ingle 2016	[31] Zhu 2013	[29] Shanske 2012	[29] Shanske 2012	[1] Doyle 2012 case 1 of 10	[1] Doyle 2012 8 of 10	[28] Watanabe 2011	[28] Watanabe 2011	[28] Watanabe 2011	[28] Watanabe 2011	[27] Gupta 2012	[25] Kosaki 2006	[25] Kosaki 2006	[24] Robinson 2005(1)	[24] Robinson 2005(3)	[24] Robinson 2005(4)	[24] Robinson 2005(7)	[24] Robinson 2005(8)	[24] Robinson 2005(9)	[24] Robinson 2005(11)	[24] Robinson 2005(12)	[24] Robinson 2005(14)	[23] Greally Case 3 of 5	[23] Greally 5 of 5	[21] Shprintzen 1982	[21] Shprintzen 1982	[20] Sugarman 1981
^* Spinal MRI	Cervical spine instability	+			+					+	+							+
	^*Dural ectasia	+TL						+L
	Severe spondylolysis						+
	^*Spinal cord impingement	+C		+MO																											+C
Brain MRI	Small pituitary gland										+
Brain MRI	Enlarged ventricles									+											+		+	+	+								+
EEG	Seizure activity					+			+	−
Spine Xray	Scoliosis	+	+	+		+	+	+			+			+	+	+	+	+	+	+
Spine Xray	Spina bifuda occulta		+																					+
Skull Xray	Midface hypoplasia	+						+		+								+	+	+
Skull Xray	Craniosynostosis	+	−	+	+			+		+	+			+	+	+	+		+	+				+	+							+	+
Echocardiogram	Atrial septal defect								+		−			+												+
	Mitral valce prolapse					+	+				−																						+
	Aortic root dilatation	+	−	+	−		+			+	−				+		+	+	+	+		+	+
CT chest	Recurrent pneumonia							+																							+
CT chest	^*** Aneurysm		ThAAA				TAA					SAA	SAA
Ultrasound	Undescended testes																										+		+
Surgery/treatment	Gastrostomy tube placed	+									+										+
	Tracheostomy										+																				+
	Tonsillo-adenoidectony	+					+																		+
	Mandibular osteotomy and distraction	+
	Cranioplasty/craniectomy	+									+									+
	Cervical spine surgery	+									+
	^***Hernia	+UI	−		+UI	+U		+										+U		+I	+U		+I		+	+ I		+I	+					+
	Mitral valve prolapse repair					+
	Aortic valve repair																			+
	^***TAA, ThAAA, SAA repair			+								SAA	SAA
	Atrial septal defect repair								+
	Scoliosis surgery										+			+	+	+	+			+
	Metatarsus adductus surgery																				+									+
	Knee surgery																		+
	Genu recurvatum repair										+										+									+
	Cleft palate repair																				+											+	+
	Continuous positive airway pressure (CPAP)	+																								+		+
	Orchidoplexy																										+		+
	Seizure meds					+

‘+’ – present; ‘−‘ – not present; blank – no information.

C – cervical; T – thoracic; L – lumbar; MO – medulla oblongata.

^**

Thoracic, Abdominal Aortic (ThAAA); Thoracic Aortic (TAA); Splenic Aortic (SAA).

^***

Umbilical (U) or Inguinal (I) Hernia; UI – both.