Goldenhar Sendromu: bir olgu sunumu Türkçe

Öz

Goldenhar sendromu okülo-aürikülo-vertebral spektrum , göz, vertebra, kalp, akciğer, gastrointestinal, genital, ürolojik, ve otorinolojik anomalilerle karakterize, oldukça heterojen, çoğu kez sporadik olan bir sendromdur. Sıklığı 56,000 canlı doğumda 1 olarak değerlendirilmektedir. Bir günlük erkek bebek emmeme ve ağzından köpük gelmesi nedeniyle getirildi. Vücut ağırlığı 2450 gr, boy 47 cm ve baş çevresi 33 cm idi. Genel durum orta, yenidoğan reflexleri azalmıştı. Hastada burun kökü basıklığı, hipertelorizm, kısa boyun ve bilateral mikrotiası mevcuttu. Sol dış kulak yolu görülmüyordu. Ağlarken ağzını açamıyordu. Ekokardiografik incelemede patent foramen ovale saptandı. Renal ultrasonografide sol pelvik yerleşimli böbrek tesbit edildi. Bilgisayarlı beyin tomografisi normal idi. Temporal kemik tomografisinde bilateral dış kulak yapıları kemikçik yapıları iç akustik kanallar ve mastoid hücre havalanması normaldi. Direkt grafisinde torakal 10. vertebrada hemivertebra aynı seviyede sol kot agenezisi ve açıklığı sola bakan skolyoz tesbit edildi. Kromozom analizinde karyotip 46,XY idi. Kulak anomalisi olan hastalarda Goldenhar sendromunun düşünülmesini hatırlatmak amacıyla bu vaka sunuldu

Anahtar Kelimeler

• Goldenhar's sendromu,yenidoğan,skolyoz,mikrotia

Goldenhar syndrome: a case report

Öz

Goldenhar syndrome okulo-aurikulo-vertebral spectrum , eye, spine, heart, lung, gastrointestinal, genital, urological and otorinolojic anomalies characterized by a highly heterogeneous, a syndrome which is often sporadic. The frequency of live births to 1 in 56,000 is considered. A 1-day-old-male infant was due to arrive at decrease in absorption and foam from the mouth. His weight was 2450 g, length 47 cm and head circumference 33 cm. General condition was moderate, neonatal reflex decreased. Patients had flattened root of the nose, hypertelorism, short neck and bilateral microtia. The left external ear canal was not seen. When he's cry, he could not open his mouth. Echocardiographic examination found a patent foramen ovale. Renal ultrasonography was found in the left pelvic kidney. Computerized tomography of the brain was normal. Tomography of the temporal bone in the ossicular structures of bilateral internalacoustic structure of the external ear canals and mastoid air cells were normal aeration. Direct X-ray thoracic 10 agenesis of the left rib and spine clearance to the left facing the same level of hemivertebrae scoliosis were identified. Chromosome analysis was 46,XY caryotype. Goldenhar syndrome in patients with ear anomalies in order to remind the consideration of this case was presented

Anahtar Kelimeler

• Goldenhar's syndrome,newborn,scoliosis,microtia

Kaynakça

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