Table 1.
Fetal causes of limb anomalies.
| Etiology/Syndrome | Number of cases | Presentation | |
|---|---|---|---|
| Limb anomalies | Associated anomalies | ||
|
| |||
| Chromosomal aberrations | 9 | ||
|
| |||
| Trisomy 13 | 5 | Postaxial polydactyly | Holoprosencephaly, microcephaly, cleft lip/palate |
|
| |||
| Duplication 13 (13q+) | 1 | Postaxial polydactyly | Congenital heart, blepharophimosis, long philtrum |
|
| |||
| Trisomy 18 | 1 | Preaxial polydactyly | Micognathia, clenched hands, protruded occiput, malformed ears, overlapping fingers |
|
| |||
| CATCH 22 (22q−) | 1 | Postaxial polydactyly (F) | Congenital heart, abnormal face, thymus hypoplasia, cleft palate, hypocalcaemia |
|
| |||
| Trisomy 21 | 1 | Syndactyly 4th, 5th fingers | Upward slanting palpebral fissures, low-set ears, depressed nasal bridge, hypotonia, mental retardation |
|
| |||
| Single gene disorders | 30 | ||
|
| |||
| Isolated polydactyly (AD) | 12 | Polydactyly (F and/or T) | |
|
| |||
| Synpolydactyly (AD) | 5 | Synpolydactyly (F or T) | |
|
| |||
| Meckel-Gruber synd. (AR) | 3 | Polydactyly (F and/or T) | Anencephaly, polycystic kidney, cleft palate |
|
| |||
| Apert syndorome (AD) | 2 | Acrosyndactyly (F) | Craniosynostosis, flat face, down slanting palpebral fissures |
|
| |||
| Radial ray defect (AD or AR) | 2 | Absent thumb, radial hypoplasia | Ventricular septal defect |
|
| |||
| Fraser syndrome (AD) | 1 | Acrosyndactyly (F and T) | Eyes covered by forehead skin, no eye lids, anal atresia |
|
| |||
| Bardet-Biedl syndrome (AR) | 1 | Postaxial polydactyly (F and T) | Obesity, retinal pigmentation, ventricular septal defect |
|
| |||
| Syndactyly (AD) | 2 | Syndactyly (F or T) | |
|
| |||
| Split hand/foot syndrome (AD) | 1 | Absent middle finger, absent second toe, syndactyly 3rd and 4th toes | |
|
| |||
| Triphalangeal thumb polydactyly syndrome (AD) | 1 | Triphalangeal thumb, preaxial poldactyly | |
|
| |||
| Total cases | 39 | ||
F=fingers, T=toes