Table 2

Clinical features reported in NBS

FeaturesNo. affected
Growth and development
 Microcephaly55/55
 Growth retardation55/55
Craniofacial features
Receding forehead52/52
 Prominent mid face with long nose and philtrum47/47
 Receding mandible47/47
 Epicanthic folds36/51
 Sparse hair26/35
 Large ears24/29
 Subtle scleral telangiectasia8/25
Intelligence
Normal intelligence22/55
 Borderline to mild retardation28/55
 Moderate retardation5/55
Skin abnormalities
Café au lait spots18/21
 Vitiligo spots14/21
 Sun sensitivity of eyelids10/19
 Pigment deposits in eye fundus8/17
 Cutaneous telangiectasia3/32
Congenital malformations
Clinodactyly22/34
 Syndactyly12/36
 Anal atresia4/55
 Hydronephrosis3/55
 Hip dysplasia3/55
 Others10/55
Infections
Bronchopneumonia38/50
 Otitis17/33
 Urinary tract infections13/20
 Sinusitis9/30
 Gastrointestinal tract infections3/3
Malignancies
Lymphoma16/55
 Leukaemia1/55
 Lymphoblastic lymphoma/leukaemia2/55
 Medulloblastoma1/55
 Rhabdomyosarcoma1/55
 Glioma1/55