Case Report
Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa
Table 1
Summary of clinical features in trisomy 13.
| Study | Taylor [10] | Hodes et al. [11] | Moerman et al. [12] | Lin et al. [13] | Petry et al. [6] | Quelin et al. [14] | Patient | Year | 1968 | 1978 | 1988 | 2007 | 2013 | 2014 | 2014 |
| Country | England | USA | Belgium | Taiwan | Brazil | France | DRC | Samples () | 27 | 19 | 12 | 28 | 30 | 3 | 1 | Features | % | % | % | % | % | % | % | Craniofacial | | | | | | | | Abnormal auricles | 74 | 79 | 25 | 0 | 77 | 0 | − | Microphthalmia | 70 | 84 | 42 | 54 | 60 | 33 | − | Anophthalmia | 0 | 11 | 0 | 14 | 10 | 33 | + | Low-set ears | 85 | 0 | 33 | ? | 47 | 33 | + | Aplasia cutis/scalp defect | 0 | 47 | 25 | 29 | 43 | 0 | + | Microcephaly | 59 | 58 | 50 | 61 | 40 | 0 | + | Cleft palate | 67 | 68 | 42 | ? | 33 | 0 | + | Cleft lip | 56 | 53 | 8 | ? | 23 | 0 | + | Short neck | 70 | 16 | 0 | 46 | 30 | 0 | + | Ocular hypotelorism | 0 | 21 | 17 | 0 | 10 | 0 | + | Thorax/abdomen | | | | | | | | Inguinal hernia/umbilical hernia | 37 | 32 | − | 14 | 20 | 0 | − | Anogenital | | | | | | | | Cryptorchidism | 93 | 100 | 50 | 73 | 78 | 0 | + | Micropenis | − | 5 | 50 | ? | 30 | 0 | + | Limbs, skin, and neurological | | | | | | | | Postaxial polydactyly hands/feet | 70 | 58 | 67 | 64 | 63 | 0 | + | Single palmar crease | 59 | 0 | 42 | 32 | 33 | | − | Duplicated hallux | − | − | − | − | 3 | 33 | + | Capillary hemangioma | 56 | 37 | 0 | 14 | 27 | 0 | − | Mongolian spot | 0 | 0 | 0 | 0 | 0 | 0 | − | Hypertonia/hypotonia | 77 | 16 | 0 | 0 | 33 | 0 | + |
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