Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome

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Table 1 Clinical findings of RSS patients

Patient	RSSH01	RSSH02	RSSH03	RSSH04	RSSH05	RSSH06	RSSH07	RSSH08
	(Patient III)*	(Patient VI)*	(Patient VIII)*
Gender	F	M	F	M	M	M	F	M
Age at time of radiography	15 yrs 3 months	21 yrs 11 months	26 yrs 7 months	24 yrs 1 month	7 yrs 7 months	13 yrs 6 months	1 yr 8 months	1 month
Craniofacies
Macrocephaly	+	+	+	+	+	-	-	+
Prominent Forehead	+	+	+	+	+	+	+	+
Brachycephaly	+	+	+	+	+	+	+	+
Low posterior hairline	+	+	+	+	+	+	+	+
Wide palpebral fissures	+	+	+	+	+	+	+	+
Hypertelorism	+	+	+	+	+	+	+	+
Coloboma	+	-	-	ND	-	ND	-	ND
Low set ears	+	+	+	+	+	+	Not documented	+
CNS Finding	Cranial ultrasound-no abnormality detected	Dandy-Walker cyst with hypoplasia of the vermis, abnormal gyri of cerebral cortex	Extra-axial fluid over cerebral hemispheres	Not imaged	Dandy-Walker variant with cerebellar vermis hypoplasia, hydrocephaly	Third, fourth and lateral ventricles prominent. Mild amount of extra-axial fluid within both frontal regions	Heterotopic grey matter adjacent to the occipital horn of both the left and right ventricles	Hypoplasia of the cerebellar vermis with associated dilatation of the 4^th ventricle, consistent with a Dandy-Walker variant
Intellectual Disability	+	+	+	+	+	+	+	+
Cardiac Finding	ASD/VSD, aberrant right subclavial artery, left sided superior vena cava joined at the coronary sinus	Muscular VSD with right ventricular hypertrophy	-	Limited study. No clinical evidence of cardiac disease.	ASD,VSD	Biventricular hypertrophy, intra-arterial defect	Large perimem- branous VSD + small PDA	-
Brachydactyly	+	+	+	+	-	+	+	+

*Marles et al. (1995) Am J Med Genet 56:343-350. ND = not documented, ASD = atrial septal defect, VSD = ventricular septal defect, PDA = patent ductus arteriosus. Patients RSSH02-06 and RSSH08 were included in the molecular analysis (Elliott et al., 2013).