| Autor: |
Whitelaw, CM, Anwar, S, Ades, LC, Gole, GA, Elder, JE, Savarirayan, R |
| Přispěvatelé: |
Faculteit Medische Wetenschappen/UMCG |
| Jazyk: |
angličtina |
| Rok vydání: |
2004 |
| Předmět: |
|
| Zdroj: |
American Journal of Medical Genetics. Part A, 128A(4), 418-421. Wiley |
| ISSN: |
1552-4825 |
| Popis: |
We present the clinical and ophthalmological findings in two infants with neonatal Marfan syndrome (nMFS) and primary trabeculodysgenesis (PT). Fibrillin 1 (FBN1) mutations were confirmed in both cases. Numerous eye anomalies have been recognized in infants with nMFS, but PT has not been reported previously. Our report expands the phenotype of nMFS, and highlights the importance of early and careful ophthalmological assessment of these infants. (C) 2004 Wiley-Liss, Inc. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
Plný text