Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

Table 1 Summary of systemic features in non-lethal Raine syndrome individuals

Family	Family 1			Family 2
Pedigree number	IV-4	IV-5	IV-6	VI-1	VI-2
Sex	M	M	F	M	M
Age at last review (yrs)	27	22	21	13	12
Neurological
Intracranial calcifications	NA	NA	+	+	+
Seizures	+	-	NA	+	-
Craniofacial
Skull osteosclerosis	-	-	-	-	-
Microcephaly	+	+	-	+	+
Craniosynostosis	-	-	-	+	+
Exophthalmos	+	+	+	+	+
Visual Impairment	-	-	-	+	-
Midface hypoplasia	+	+	+	+	+
Depressed nasal bridge	-	-	-	+	+
Choanal atresia	+	-	-	+	-
Low set ears	-	-	-	+	+
Dysplastic ears	+	+	+	-	-
Hearing loss	+	+	+	-	-
Skeletal
Short stature	-	-	-	+	+
Short limbs	-	-	-	+	+
Undermineralized long bones	-	-	-	+	+
Short fingers	-	+	-	+	+
Clinodactyly	-	-	-	+	+
Genito-urinary
Renal calcifications	-	-	-	+	-

ISSN: 1471-2350