Table 2.

Clinical Details of the Nine Patients with Marshall-Smith Syndrome

Patient	1	2	3	4	5	6	7	8	9
NFIX mutation	c.955+1G>A	c.955+1G>T	c.1011_1012 delTC	c.1037_1038 insT	c.1008_1012 delCTCTC	c.1048_1049 insC	c.1243 delG	c.994_995 insT	c.959_960 insC
Epidemiology
Gender	M	F	M	M	F	F	M	F	M
Age at last examination	3 weeksa	6 months	26 months	3 years	6 years	7 years	7 years	16 years	21 years
Ethnic origin	Belgium	Croatia	India	Netherlands	Brazil	Portugal	France	UK	UK
Growth
Birth weight (g)	2600	3400	2950	2975		1590	3230	2800	3860
Present weight (kg)	2965	5	9.1	15			21	35	41
Present height (cm)	55	68	82	100		103	120	131
Development
Degree of delay	n.a.	Sev	Sev	Mod	Mod-Sev	Mod	Mod	Sev	Sev
First words (mths)	n.a.	n.a.	-	-		60	36	None	None
Neurology
High tone	-	-	-	-		-	-	N/A	N/A
Brain MRI	dilated ventricles	pachygyria, hypoplasia callosal body	CTscan: N	hypoplasia callosal body		N/A	N/A	N/A	N/A
Craniofacial features
High forehead	+	+	+	+	+	+	+	+	+
Proptosis	+	+	+	+	+	+	+	+	+
Underdeveloped midface	+	+	+	+	+	-	+	+	+
Short nose	+	+	+	+	-	-	+	+	+
Prominent premaxilla	+	+	+	+	+	+	+	+	+
Everted lips	-	-	-	+	+	-	+	+	+
Gum hypertrophy	-	+	+	+		-	+	-	-
Retrognathia	+	+	+	+	+	+	+	+	-
Eyes
Myopia	-	-	-	−14	−5/-8	−12/-9	-	-	-
Blue sclerae	+	+	+	+	+	-	+	+	+
Respiratory
Choanal stenosis	-	+	-	-		-	+	-	-
Respiratory problems	+	+	-	+	+	-	+	-	+
Musculo-Skeletal
Abnormal bone maturation	+	+	+	+	+	+	+	+	+
Bone fractures	-	-	-	1	-	-	4	-	-
Scoliosis	-	-	-	-	+	-	+	+	+
Kyphosis	-	-	-	-	+	+	+	+	+
Umbilical hernia	-	+	-	-		-	+	-	-
Other
Cardiac defect	-	-	-	-		VSD	-	VSD	-
Hearing loss	+	+	-	+		-	+	N/A	N/A
Hypertrichosis	-	+	+	+		+	+	+	+
Miscellaneous		IgA deficiency; vesico-ureteral reflux; long fingers	abnormal pinnae	hypospadias; glaucoma	long fingers		pyloric stenosis	Wilms tumor aged 4

Abbreviations: M, male; F, female; n.a., not applicable; N/A, not available; sev, severe; mod, moderate; VSD, ventricular septal defect.

^aDeceased.