| Autor: |
Gnamey DK; Unité de Génétique Humaine, Centre Hospitalier Universitaire Tokoin, Lomé, Togo. didierkoffignamey@yahoo.fr, Koffi KS, Nagalo K, Guedenon KM, Akakpo-Numado GK, Balaka B, Tatagan-Agbi K, Atakouma DY |
| Jazyk: |
angličtina |
| Zdroj: |
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2010; Vol. 21 (1), pp. 41-7. |
| Abstrakt: |
Here we report the association of giant aplasia cutis congenita in a newborn black male with Goltz syndrome. The cutis aplasia defect is extensive and circonscript at the vertex. The cerebral structures are visible through the lesions. In addition, the patient has a low birth weight, syndactyly, adactyly, cutaneous atrophy, and areas of hyperpigmentation on the legs and hypoplastic maxillary. We think that these signs are probably due to mosaic mutations in PORCN. We reviewed 18 cases of Goltz syndrome in 18 male neonates but none has aplasia cutis congenita. Such a combination of severe aplasia cutis congenita was not reported previously in Goltz syndrome. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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