Goldenhar's syndrome (oculo-auriculo-vertebral dysplasia) with congenital facial nerve palsy

被引:32
|
作者
Berker, N
Acaroglu, G
Soykan, E
机构
[1] Social Insurance Eye Hosp, Dept Uveal & Retinal Dis, Ankara, Turkey
[2] Social Insurance Eye Hosp, Dept Neuro Ophthalmol & Orbital Dis, Ankara, Turkey
关键词
Goldenhar's syndrome; oculo-auriculo-vertebral dysplasia; congenital facial nerve palsy; hemi facial microsomia; anotia;
D O I
10.3349/ymj.2004.45.1.157
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. In this report, a case of a male infant, with the features of hemi facial microsomia, anotia, vertebral anomalies, congenital facial nerve palsy and lagophthalmos is described. Although the syndrome itself is not uncommon, the presence of congenital facial nerve palsy, which has been reported in rare cases, prompted this case report.
引用
收藏
页码:157 / 160
页数:4
相关论文
共 50 条
  • [31] GOLDENHARS SYNDROME (OCULO-AURICULO-VERTEBRAL DYSPLASIA - 2 NEW OBSERVATIONS IN INFANTS
    PRIGENT, F
    RAMEL, F
    DEMOULLIAC, JV
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 1983, 110 (04): : 345 - 349
  • [32] THE EAR DEFORMITIES IN CRANIOFACIAL MICROSOMIA AND OCULO-AURICULO-VERTEBRAL DYSPLASIA
    PHELPS, PD
    LLOYD, GAS
    POSWILLO, DE
    JOURNAL OF LARYNGOLOGY AND OTOLOGY, 1983, 97 (11): : 995 - 1005
  • [33] Facial and oral features of oculo-auriculo-vertebral spectrum (OAVS)
    Dantas Mestrinho, H.
    Ferreira Leite, A.
    Souza Figueiredo, P. T.
    Bastos Oliveira, A.
    ORAL DISEASES, 2014, 20 : 28 - 28
  • [34] Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
    Dagmar Wieczorek
    Michael Ludwig
    Stefan Boehringer
    Piet Hein Jongbloet
    Gabriele Gillessen-Kaesbach
    Bernhard Horsthemke
    Human Genetics, 2007, 121 : 369 - 376
  • [35] Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
    Wieczorek, Dagmar
    Ludwig, Michael
    Boehringer, Stefan
    Jongbloet, Piet Hein
    Gillessen-Kaesbach, Gabriele
    Horsthemke, Bernhard
    HUMAN GENETICS, 2007, 121 (3-4) : 369 - 376
  • [36] Oculo-Auriculo-Vertebral Spectrum in Patients with Congenital Heart Defects
    Machado Rosa, Rafael Fabiano
    Gazzola Zen, Paulo Ricardo
    Monteiro Flores, Jose Antonio
    Golendziner, Eliete
    Pilla, Carlo Benatti
    Roman, Tatiana
    Varella-Garcia, Marileila
    Paskulin, Giorgio Adriano
    ARQUIVOS BRASILEIROS DE CARDIOLOGIA, 2010, 95 (04) : 436 - 440
  • [37] Monocanalicular intubation for dacryostenosis in oculo-auriculo-vertebral dysplasia (hemifacial microsomia) with congenital corneal anesthesia
    Mazzoli, RA
    Raymond, WR
    Ainbinder, DJ
    Hansen, EA
    Parmley, VC
    Skidmore, EC
    OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY, 2000, 16 (01): : 55 - 57
  • [38] Dominant oculo-auriculo-vertebral complex
    Gasser, B
    Viville, B
    Treisser, A
    Stoll, C
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A98 - A98
  • [39] Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia
    Mendes Pegler, Jos Roberto
    de Queiroz Soares, Diogo Cordeiro
    D'Angioli Costa Quaio, Caio Robledo
    Fernandes, Natalia
    Nunes de Oliveira, Luiz Antonio
    Honjo, Rachel Sayuri
    Bertola, Debora Romeo
    Kim, Chong Ae
    REVISTA DA ASSOCIACAO MEDICA BRASILEIRA, 2016, 62 (03): : 202 - 206
  • [40] A CASE OF OCULO-AURICULO-VERTEBRAL DYSPLASIA (GOLDENHARS SYNDROME) WITH CUTANEOUS INVOLVEMENT - CASE-REPORT
    WILLOCX, D
    BOURLOND, A
    VLIERS, A
    VERELLENDUMOULIN, C
    DESELYS, R
    DERMATOLOGICA, 1989, 179 (03): : 142 - 146