Table 1

Presence of specific clinical signs in 92 NF1 microdeleted patients v NF1 patients according to published reports

Clinical signsNF1 microdeleted patientsNF1 patients
Total evaluableTotal affected%%Discordance* (χ2 value)
*The discordant values between the two groups of patients and the relative clinical signs are given in bold.
†Including the following signs, each observed in at least one patient: coarse face, flat occiput/brachycephaly, facial asymmetry, prominent forehead, frontal bossing, ptosis, downslanting deep set eyes, eversion of the lateral eyelid, epicanthic folds, strabismus, large nose, prominent nose, high nasal bridge, broad nasal bridge, broad nose, bulbous nasal tip, large ears, low set ears, malar hypoplasia, wide philtrum, prominent philtrum, small mouth, thick lips, micrognathia, small pointed chin, low posterior hairline.
‡Including: atrial septal defect, ventricular septal defect, patent ductus arteriosus, pulmonary stenosis, dilated aortic valve, hypertrophic cardiomyopathy, mitral valve prolapse.
Plexiform neurofibroma88252825 to 30No (0.36 to 0.13)
Macrocephaly63203240 to 50No (1.6 to 6.48)
Facial dysmorphisms8869785 to 15 Yes (1065.8 to 264.6)
Hypertelorism 64274215 Yes (48.60)
Mental retardation 6336574 to 8 Yes (702 to 300.1)
Seizures56593.8 to 6No (7.11 to 1.5)
Cardiovascular malformations6111182.1 Yes (120.39)
Deafness82225.3No (2.05)
Scoliosis6091510 to 30No (2.5 to 7.5)
Pectus excavatum-carinatum58101720No (0.45)