Table 2

Clinical features of the 14 newly described patients carrying NF1 microdeletion characterised by refined fluorescent in situ hybridisation (FISH) analysis

PatientAge (years)SexDeletion typeClinical signs
Growth defectsDysmorphicMental retardationCardiovascular malformationOther features
*Hypertelorism, epicanthic folds, low set ears, low posterior hairline.
†Hypertelorism, downslanting eye, strabismus, large and prominent nose with high and broad bridge, bulbous nasal tip, large and low set ears, malar hypoplasia, wide and prominent philtrum, small mouth, small pointed chin.
‡Hypertelorism, long philtrum, broad nose.
§Prominent forehead, hypertelorism, ptosis (O.DX), downslanting eyes; strabismus, large and prominent nose with high and broad bridge and bulbous nasal tip, large and low set ears, wide and prominent philtrum, low posterior hairline.
¶Coarse face, hypertelorism.
**,††Epicanthic folds.
‡‡Hypertelorism, broad and wild nasal bridge, broad nasal tip.
§§Simple facial features.
¶¶Epicanthic folds, bulbous nose, narrow high palate, low forehead.
cen-REP, deletion extending centromerically to REP-P; CVM, cardiovascular malformations; F, female; HCM, hypertrophic cardiomyopathy; LD, learning disabilities; M, male; MCLS, multiple cafè-au-lait spots; NF, neurofibroma; REP, NF1 repeat mediated deletion; U, unknown; VSD, ventricular septal defect.
1185Mcen-REPNoNoNoOptic glioma, seizures
936MREP90th centile, macrocephalyYes*NoHCMBroad neck, 3 NFs
656MREPHeight 3rd centile, microcephaly 2nd centileYes†IQ48VSD (upper part)Small hands/feet, short fingers
1166MREPShort stature 10th centileYes‡IQ54Mitral insufficiencyMCLS, kyphoscoliosis, pectus excavatum, genu valgus, pes planus, umbilical hernia
727MREPNoYes§IQ50Small hands/feet, short fingers
711MREPNoYes‡‡Speech impairmentMCLS, amblyopia, thalamic hamartoma
8223FREPShort statureNoNoHearing impairment, Noonan-like
77UFREPOvergrowth >97th centileYes§§Speech impairment, LDNFs, required special education, short and broad fingers and toes
78UFREPYes¶¶Speech impairmentDelayed motor development, short and broad feet, fifth finger clinodactyly