Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

Table 1 Clinical Features of the patients on the basis of the work of Urbina et al.[10]

	Patient VI-3	Patient VI-4	Patient VI-5	Patient V-15	Patient VI-10	ISH	JHF
Papular skin lesions	+	+	+	+	+	+	+
Thickened skin	-	-	-	-	-	+	-
Gingival hyperplasia	+	+	+	+	+	+	+
Perianal nodules	+	+	+	+	+	+	+
large nodules/tumors	+	+	+	+	+	-	+
Hyperpigmented plaques Joints and bones	-	-	-	-	-	+	-
joint contractures	+	+	+	+	+	+	+
Osteoporosis/osteopenia	+	+	+	+	+	+	+
Osteolysis	+	+	+	+	+	+	+
Persistent diarrhea	+	-	-		-	+	-
Recurrent infections	-	-	-	-	-	+	-
Visceral involvement	-	-	-	-	-	+	-
Short stature	-	-	-	-	-	+	-
Prolonged survival	+	+	+	+	+	-	+

ISSN: 2730-6844