Clinical features of the 14 newly described patients carrying NF1 microdeletion characterised by refined fluorescent in situ hybridisation (FISH) analysis
| Patient | Age (years) | Sex | Deletion type | Clinical signs | |||||
|---|---|---|---|---|---|---|---|---|---|
| Growth defects | Dysmorphic | Learning disability | Cardiovascular malformation | Other 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. | |||||||||
| 119 | 4 | M | REP | No | No | No | – | ||
| 118 | 5 | M | cen-REP | No | No | No | – | Optic glioma, seizures | |
| 93 | 6 | M | REP | 90th centile, macrocephaly | Yes* | No | HCM | Broad neck, 3 NFs | |
| 65 | 6 | M | REP | Height 3rd centile, microcephaly 2nd centile | Yes† | IQ48 | VSD (upper part) | Small hands/feet, short fingers | |
| 116 | 6 | M | REP | Short stature 10th centile | Yes‡ | IQ54 | Mitral insufficiency | MCLS, kyphoscoliosis, pectus excavatum, genu valgus, pes planus, umbilical hernia | |
| 72 | 7 | M | REP | No | Yes§ | IQ50 | Small hands/feet, short fingers | ||
| 76 | 8 | F | REP | No | Yes¶ | No | – | – | |
| 94 | 8 | F | REP | No | Yes** | No | – | – | |
| 75 | 9 | F | REP | No | Yes†† | No | – | – | |
| 85 | 11 | M | REP | No | No | IQ77 | – | MCLS | |
| 7 | 11 | M | REP | No | Yes‡‡ | Speech impairment | – | MCLS, amblyopia, thalamic hamartoma | |
| 82 | 23 | F | REP | Short stature | No | No | – | Hearing impairment, Noonan-like | |
| 77 | U | F | REP | Overgrowth >97th centile | Yes§§ | Speech impairment, LD | – | NFs, required special education, short and broad fingers and toes | |
| 78 | U | F | REP | – | Yes¶¶ | Speech impairment | – | Delayed motor development, short and broad feet, fifth finger clinodactyly | |