Unusual occurrence of cystic fibrosis and alobar holoprosencephaly
Neurosciences. 2008; 13 (2): 169-173
em Inglês
| IMEMR
| ID: emr-89218
ABSTRACT
Holoprosencephaly [HPE] is a defect of embryonic forebrain resulting from failure of growth and segmentation of the anterior end of the neural tube. It has been classified into 4 types based on the severity of associated brain and facial malformations. The most severe variety called alobar HPE is generally associated with major cranio-facial anomalies such as cyclopia, ethmocephaly, cebocephaly, or cleft-lip/palate. Significant etiological heterogeneity exists in HPE and includes both genetic and environmental causes. Maternal diabetes is a well-established environmental factor with a significant increased risk for HPE. We report on a Saudi Arab girl born to a diabetic mother, with the alobar type of holoprosencephaly, associated with very minimal cranio-facial defects. However, she displayed several other congenital malformations. In addition, she was diagnosed with cystic fibrosis. Simultaneous occurrence of cystic fibrosis and congenital anomalies has been rare
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Anormalidades Múltiplas
/
Holoprosencefalia
/
Fenda Labial
/
Fissura Palatina
/
Anormalidades Craniofaciais
/
Fibrose Cística
/
Diabetes Mellitus
/
Mães
/
Defeitos do Tubo Neural
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Neurosciences
Ano de publicação:
2008
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