TABLE 4.

Clinical features of patients with atypical NF1 microdeletions.

Patient	Age (y)	Gender	Skin manifestations	Neurofibromas	Dysmorphic features	Skeletal manifestations	Ocular Manifestations	Neuropsychological manifestations	Other	References
BUD	14; 18	N/A	CALs, F	Many CNF, SNF	Coarse face	SCS, genu valgum, joint laxity	N/A	SDiCD, ID, T2 hyperintensities	Many ST	Kehrer-Sawatzki et al., 2003
3724A	13	Female	CALs, F	Few CNF	Coarse face, FA, hypertelorism, ptosis, broad lips and nose	PE	LiN	Moderate ID	-	Cnossen et al., 1997
6	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	Venturin et al., 2004a, b
UWA106-3	18	Male	CALs, F	Many CNF, PNF, spinal NF	Coarse face, large hands	MA	N/A	SDiCD, IQ 46	Many ST	Dorschner et al., 2000; Kayes et al., 1992
442	18; 26	Male	CALs, F	Multiple SCNF, and many CNF, PNF	Coarse face	SCS	LiN	IQ 76, severe LD	Many ST	Kehrer-Sawatzki et al., 2005
BL	13,5	Male	CALs, F	-	FD, hypertelorism	Skeletal anomalies	-	Severe ID	-	Riva et al., 2000
ID806	3 mo; 3; 4	Male	CALs, F	-	Narrow palpebral fissures, ptosis, low set, rotated ears, prominent maxilla	-	-	Marked developmental delay, SP, seizure	-	Upadhyaya et al., 1996
UWA155-1	27	N/A	-	Multiple CNF, spinal NF	Coarse face, ptosis, large hands and feet	MA	-	Moderate ID	MPNST	Dorschner et al., 2000
118	5	Male	CALs, F	N/A	-	-	OPG	Seizure, no LD	-	Venturin et al., 2004b
282775	n.d.	N/A	CALs	-	Noonan-like FD	-	-	PD, SP	-	Mantripragada et al., 2006
552	20	Female	CALs, F	2 PNF, 4 SIN NF	Large hands and feet	PE, lumbar lordosis, pedes valgoplanus	LiN, visual disturbance	Mild ID, severe LD, SP, hypotonia	-	Kehrer-Sawatzki et al., 2008
NF040	1	Female	CALs	PNF	-	-	*	*	-	Zhang et al., 2015
NF056	60	Female	CALs, F	CNF	-	-	*	*	-
NF073	25	Female	CALs, F	CNF	-	-	*	*	-
NF076	36	Female	CALs	CNF	-	-	*	*	-
556/NF	10	Male	CALs, F	-	-	Bilateral PP	OPG	-	-	this study
125/NF	2	Female	CALs, F	-	-	PE	-	-	-
134/NF	40	Female	CALs	SCNF	Hypertelorism	SCS	-	-	-
260/NF	8	Male	CALs, F	-	FD, hypertelorism	PE, MA	OPG	SDiCD, T2 hyperintensities	ASD

CALs, café-au-lait spots; F, freckling; FA, facial asymmetry; FD, facial dysmorphy; CNF, cutaneous neurofibroma; SCNF, subcutaneous neurofibroma; PNF, plexiform neurofibroma; SIN NF, small intramuscular nodular neurofibroma; ST, spinal tumors; MPNST, malignant peripheral nerve sheath tumors; SDiCD, significant delay in cognitive development; ID, intellectual disability; LD, learning difficulties; SP, speech delay; PD, psychomotor delay; SCS, scoliosis; PE, pectus excavatum; MA, macrocephaly; PP, pes planus; LiN, Lisch nodule; ASD, atrial septal defect. * unclear results in the original article. NA, no data available.