Prenatal findings in cardio-facio-cutaneous syndrome
| Autor: | Sabine Sigaudy, Nathalie Pouvreau, Hélène Heckenroth, Ludivine Templin, Tiffany Busa, Clarisse Baumann, Nicole Philip, Hélène Cavé, Annick Toutain, Alain Verloes |
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| Přispěvatelé: | Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS) |
| Rok vydání: | 2015 |
| Předmět: |
Heart Defects
Congenital Male Proto-Oncogene Proteins B-raf 0301 basic medicine medicine.medical_specialty Polyhydramnios ă short femora 030105 genetics & heredity Gene mutation cardio-facio-cutaneous syndrome 03 medical and health sciences Fetus Costello syndrome Pregnancy Internal medicine Genetics medicine Fetal macrosomia Humans Abnormalities Multiple Increased nuchal translucency Genetics (clinical) business.industry Obstetrics Infant Newborn Macrocephaly Prognosis medicine.disease prenatal findings 3. Good health BRAF mutation Phenotype Endocrinology fetal ultrasound [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics fetal macrosomia Face Mutation Skin Abnormalities Female medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics Part A American Journal of Medical Genetics Part A, 2016, 170 (2), pp.441-445. ⟨10.1002/ajmg.a.37420⟩ American Journal of Medical Genetics Part A, Wiley, 2016, 170 (2), pp.441-445. ⟨10.1002/ajmg.a.37420⟩ |
| ISSN: | 1552-4825 1552-4833 |
| DOI: | 10.1002/ajmg.a.37420 |
| Popis: | International audience; Our study was designed to analyze prenatal manifestations in patientsă affected with cardio-facio-cutaneous syndrome (CFCS), in order to defineă indications of DNA testing in utero. Prenatal features were extractedă from a national database and additional data were collected from 16ă families contacted through the French association of CFC-Costelloă syndrome. We collected results of ultrasound scan (USS) biometrics,ă presence of congenital birth defects, and polyhydramnios. From theă database, increased nuchal translucency was present in 13% ofă pregnancies, polyhydramnios in 52%, macrosomia and/or macrocephaly ină 16%. Of the 16 pregnancies, 81% were complicated by abnormal USSă findings. Polyhydramnios was reported in 67%. Head circumference,ă biparietal diameter, and abdominal circumference were above the 90thă centile in 72%, 83% and, 81% of fetuses, respectively. Contrastingă with macrosomia, femur length was below the 10th centile in 38%.ă Urinary tract abnormalities were found in 47% of fetuses. Most CFCSă fetuses showed a combination of macrocephaly, macrosomia, andă polyhydramnios, contrasting with relatively short femora. This growthă pattern is also seen in Costello syndrome. We suggest that screening foră CFCS and Costello gene mutations could be proposed in pregnanciesă showing this unusual pattern of growth parameters. (c) 2015 Wileyă Periodicals, Inc. |
| Databáze: | OpenAIRE |
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