Table 3 Comparison of the clinical and genetic features in both patients
From: NF1 microdeletion syndrome: case report of two new patients
Patient 1 | Patient 2 | |
|---|---|---|
Sex/ first examination age (years) | F/ 4 | F/ 2 and 8 months |
Café-au-lait spots | 15 | 25 |
Axillary freckling | + (Fig. 1) | + |
Lisch nodules | 1, in the left eye | – |
Craniofacial dysmorphic features | high-arched palate | broad forehead dysplasic and low-set ears with thick helix synophris receding orbital roof with exophthalmos hypertelorism depressed nasal bridge bulbous nose malar hypoplasia long and prominent philtrum thick lips |
Pterygium colli | – | + |
Thoracic abnormalities | – | Pectus excavatum wide-spaced nipples supernumerary areola (Fig. 2) |
Abdominal wall abnormalities | – | diastasis recti abdominis with prominent abdomen (Fig. 2) |
Oral abnormalities | malocclusion | – |
Bone abnormalities | severe kyphoscoliosis bilateral calcaneovalgus foot | short hands/feet clinodactyly of the 5th finger deep palmar creases bilateral genu valgum andpes plano-valgus (Fig. 2) |
Muscular abnormalities | hypotonia/muscular hypotrophy | – |
Intellectual disability | – | mild intellectual disability |
Cardiovascular defects | – | supravalvular pulmonary stenosis |
Developmental delay | speech impairment | global developmental delay |
Brain MR abnormalities | – | corpus callosum hypoplasia T2 hyperintensities near the fourth ventricle periventricular hyperintensities hyperintense nodule in the left thalamus |
Genetic test result (CGHa – FISH confirmation) | 17q11.2 deletion (1 Mb) - partially CRLF3, ATAD5, TEFM, ADAP2, RNF135, OMG, EVI2B, EVI2A, RAB11FIP4 (position 29,124,299 to 30,151,654) | 17q11.2 deletion (1.2 Mb) - partially CRLF3, ATAD5, TEFM, ADAP2, RNF135, OMG, EVI2B, EVI2A, RAB11FIP4, COPRS, UTP6 and partially SUZ12 (position 29,124,299 to 30,326,958) |