Supplementary Table 5: Frequency of Clinical Symptoms in NF1 Patients with Large NF1 Deletions

Supplementary Table 5: Frequency of clinical symptoms in NF1 patients with large NF1 deletions

Clinical features / Frequency (number of patients with this feature vs. the total number of patients investigated) in
this study / Mensink et al. (2006)a / Venturin et al. (2004)a / the general NF1 population
Facial dysmorphism / 90% (26/29) / 75% (88/118) / 78% (69/88) / 
Hypertelorism / 86% (25/29) / 34%(40/118) / 42% (27/64) / 
Facial asymmetry / 28%(8/29) / 4% (5/118) /  / 
Coarse face / 59% (17/29) / 31% (37/118) /  / 
Tall-for-age stature / 46% (13/28) / 17% (19/114) /  / 
Macrocephaly / 39% (9/23) / 19% (22/114) / 32% (20/63) / 29-45%
Broad neck / 31% (9/29) / 18% (21/114) /  / 
Large hands and feet / 46%(13/28) / 22% (25/114) /  / 
Pes cavus / 17% (5/29) /  /  / 
CALM / 93% (27/29) /  /  / 90-100%
Intertriginous freckling / 97% (28/29) /  / 
Lisch nodules / 93% (27/29) /  /  / 77%
Significant delay in cognitive development / 48% (14/29) /  /  / 
Learning difficulties / 45% (13/29) /  / 57% (36/63) / 30-60%
Significant delay in cognitive development or learning difficulties / 93% (27/29) / 70% (83/118) /  / 
IQ<70 / 38% (8/21) /  /  / 8%
70<IQ<85 / 24% (5/21) /  /  / 
IQ<83 / 62% (13/21) / 64% (53/83) /  / 
ADHD / 33% (8/24) /  /  / 38-49%
Skeletal anomalies / 76% (22/29) / 27% (42/157) /  / 
Scoliosis / 43% (12/28) / 43% (18/42) / 15% (9/60) / 10-20%
Pectus excavatum / 31% (9/29) / 33% (14/42) / 17% (10/58) / 12-50%
Bone cysts / 50% (8/16) /  /  / 
Hyperflexibility of joints / 72% (21/29) / 58% (11/19) /  / 
Excess soft tissue in hands and feet / 50% (12/24) / 37% (7/19) /  / 
Cardiovascular malformationsb / 29% (8/28) /  / 18% (11/61) / 2-27%
Epilepsy / 7% (2/29) /  / 9% (5/56) / 3-7%
Muscular hypotonia / 45% (13/29) /  /  / 
Speech difficulties / 48% (14/29) /  /  / 
Subcutaneous neurofibromas / 76% (22/29) / 61% (89/145) /  / 48%
Cutaneous neurofibromas / 86% (25/29) /  /  / 85%
Plexiform neurofibromas / 76% (22/29) / 23% (34/145) / 28% (25/88) / 43-50%
MPNSTs / 21% (6/29) / 13% (19/145) /  / 2-5%
Spinal neurofibromas / 64% (9/14) / 6% (8/145) /  / 30%
Optic pathway gliomas / 19% (5/27) / 6% (8/145) / 7% (1/14) / 15-19%
Structural brain abnormalities / 17% (5/29) /  /  / 
T2 hyperintensities / 45% (13/29) /  /  / 43-79%

: not investigated or unknown
a: According to the review of the literature and their own cases.

b: Congenital heart defects were observed in 6 of the 28 patients investigated (21%).

CALM: café-au-laut macules; ADHD: attention deficit hyperactivity disorder; MPNSTs: Malignant peripheral nerve sheath tumours