Goldenhar's syndrome associated with multiple congenital abnormalities.
Goldenhar's syndrome is characterized by a combination of dermal epibulbar cysts, auricular appendices, malformation of ears, and vertebral anomalies. The average incidence ratio of Goldenhar's syndrome is estimated to be 1/5600, and the frequency of cardiovascular malformations of this syndrome is 5-58 per cent. Although the etiology of this disease is not fully understood, autosomal recessive or dominant inheritance is possible. The disease occurs as sporadic cases. Male:female ratio for the Goldenhar's syndrome is 2:1. A 72-day-old Goldenhar's syndrome case is reported who presented with multiple congenital anomalies.
Bayraktar
Suleyman
S
Haseki Research and Education Hospital, Istanbul, Turkey. ibayrakt@lfst.com
Bayraktar
Seher Tabanli
ST
Ataoglu
Emel
E
Ayaz
Ayse
A
Elevli
Murat
M
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000473:pathology; D005124:Eye Abnormalities / Q000473:pathology; D005146:Facial Asymmetry / Q000473:pathology; D006053:Goldenhar Syndrome / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male