Table 1 Characteristics of the children with microdeletion 22q11.2
From: Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland
Patients | Cardiac defect | Extra cardiac defects |
|---|---|---|
1 | ToF+ASDII+MAPCAS | Micrognathia, palatopharyngeal insufficiency, thymic and parathyroid gland hypoplasia, hypocalcaemia, choanal atresia, club foot, ectopic kidney |
2 | ASDII+VSD | Thymic gland hypoplasia |
3 | VSD | Thymic gland hypoplasia |
4 | ToF | Blepharophimosis, prominent and bulbous nose, narrow lip red, dysplastic ears, arachnodactylia, foot deformation |
5 | ASDII | Blepharophimosis, antimongoloid arrangement of lid slits, narrow lip red, narrow lips, micrognathia, low-set ears, dysplastic ears, palatopharyngeal insufficiency, arachnodactylia, mild mental retardation, ostium of the ureter atresia, cryptorchism |
6 | ToF | Hypertelorism, blepharophimosis, prominent and bulbous nose, narrow lip red, micrognathia, dysplastic ears, club foot |
7 | VSD+PDA+FO | Micrognathia, retrognathia, dysplastic ears, hypocalcaemia, arachnodactylia, increased muscular tension, incorrect distribution of palm fingers |
8 | ToF | Narrow lip red, low set ears, arachnodactylia |
9 | ToF | Dysplastic ears, arachnodactylia |
10 | ToF | Prominent and bulbous nose, micrognathia, low set ears, dysplastic ears |
11 | ASDII+VSD | Blepharophimosis, antimongoloid arrangement of lid slits, broad nose, micrognathia, retrognathia, dysplastic ears, arachnodactylia, delayed psychomotor development |
12 | ToF | Antimongoloid arrangement of lid slits, microphthalmia, prominent and bulbous nose, dysplastic ears, thymic gland hypoplasia, arachnodactylia |
13 | VSD | Micrognathia, dysplastic ears, arachnodactylia |