Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne
| Autor: | Christine Francannet, Denis Gallot, Didier Lémery, H. Laurichesse-Delmas, Anne-Marie Beaufrère, Anne Debost-Legrand, Carole Goumy, Pierre Déchelotte |
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| Rok vydání: | 2013 |
| Předmět: |
Embryology
Pediatrics medicine.medical_specialty business.industry Congenital malformations General Medicine medicine.disease High forehead Renal dysplasia Facial dysmorphism Prenatal ultrasound Pathognomonic Pediatrics Perinatology and Child Health medicine Hypertelorism medicine.symptom business Wolf–Hirschhorn syndrome Developmental Biology |
| Zdroj: | Birth Defects Research Part A: Clinical and Molecular Teratology. 97:806-811 |
| ISSN: | 1542-0752 |
| DOI: | 10.1002/bdra.23194 |
| Popis: | BACKGROUND Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation. WHS results from a 4p16.3 deletion. Only a small number of reports have been made on the prenatal ultrasound findings observed in WHS. CASES Here we report our experience on 10 cases of WHS ascertained prenatally between 1983 and 2009 through the CEMC-Auvergne registry of congenital malformations. CONCLUSION The assumption that a “Greek warrior helmet” facies is pathognomonic of WHS could lead to misdiagnosis. Other clinical findings such as severe and early onset intrauterine growth retardation, facial dysmorphism (high forehead, high nasal bridge, low-set ears, micrognathia, hypertelorism), atrial or ventricular septal defect, and renal dysplasia should help obstetricians to suspect the diagnosis of WHS prenatally. Birth Defects Research (Part A), 97:806–811, 2013. © 2013 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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