| Autor: |
L, Garavelli, S, Pedori, R, Dal Zotto, F, Franchi, M, Marinelli, G F, Croci, S, Bellato, A, Ammenti, R, Virdis, G, Banchini, A, Superti-Furga |
| Rok vydání: |
2007 |
| Předmět: |
|
| Zdroj: |
Genetic counseling (Geneva, Switzerland). 17(4) |
| ISSN: |
1015-8146 |
| Popis: |
Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more often bilateral anophthalmia/microphthalmia and foot malformations, which can be observed in 91% of the patients. The most common anomaly of the feet is the presence of four toes. The hands are affected bilaterally in 77% of the cases. The most characteristic anomaly is the synostosis of the fourth and fifth metacarpals. To date, 33 cases from 19 families have been reported. We present an Italian case of anophthalmia with limb anomalies and a renal malformation, which has never been described in the literature. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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