PRENATAL DIAGNOSIS OF GOLDENHAR SYNDROME WITH UNUSUAL FEATURES BY 3D ULTRASONOGRAPHY
[ N/A ]
Tarih
2013
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography: Oculo-auriculo-vertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, and mandible) and spinal anomalies. We report a patient with unusual features diagnosed prenatally by 3D ultrasonography at 21 weeks' gestation without a family history. An early diagnosis was suggested by observation of a maxillary cleft-plate, multiple vertebral segmentation defects and hypoplastic thumb. Postnatal evaluation also revealed ambiguous genitalia and club feet in addition to the prenatally and postnatally diagnosed classical Goldenhar syndrome features like hemifacial microsomia, preauricular and facial skin tags, coloboma of eyelids, epibulbar dermoid.
Açıklama
Anahtar Kelimeler
Goldenhar syndrome, Prenatal diagnosis, 3D ultrasonography
Kaynak
Genetic Counseling
WoS Q Değeri
Q4
Scopus Q Değeri
Cilt
24
Sayı
3
