Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports

Table 1 Comparison of the prevalence of clinical features observed in patients with type 1 NF1 deletions as reported by Mautner et al. [5] with the clinical features noted in our two patients with non-mosaic type-2 NF1 deletions

Clinical features of patients with type-1 *NF1* deletions (percentage of patients with this feature)^a	Presence or absence of this feature in our patients by breakpoint
	Patient 2429	Patient 2358
Facial dysmorphism (90%)	+	+
Tall stature (46%)^b	-	-
Large hands and feet (46%)	+	+
Macrocephaly (39%)^c	+	+
Learning disabilities (48%)	+	+ (mild)
Attention deficits (33%)	+	+
Scoliosis (43%)	-	NA
Hyperflexibility of the joints (72%)	+	+
Plexiform neurofibromas (76%)	+ (multiple)	+
Subcutaneous neurofibromas (76%)	+ (multiple)	+
Cutaneous neurofibromas (86%)	+ (multiple)	-
MPNST (21%)	+	-
T2 hyperintensities (45%)	-	+
Muscular hypotonia (45%)	NA	+
Congenital heart defects (21%)	+	+

^aAccording to the analysis of 29 patients with type-1 NF1 deletion [5].
^bTall stature was denoted if height measurements were at or above the 94th percentile.
^cMacrocephaly was denoted if the head circumference was at or above the 97th percentile.
-, absent; +, present; MPNST, malignant peripheral nerve sheath tumor; NA, not assessed.

ISSN: 1752-1947