Yasemin ÖZKALE, Nurcan CENGİZ, Murat DERBENT

Hallermann Streiff Sendromu: Olgu Sunumu

Okülo-mandibulo-dissefali olarak da bilinen Hallermann Streiff Sendromu (HSS) (OMIM 234100) nadir görülen ve esas olarak baş boyun bölgesindeki multiple konjenital anomaliler ile tanı alan bir sendromdur. Genellikle sporadik olarak ortaya çıkan bu sendrom, kuşa benzer yüz görünümü, mandibula ve maksilla hipoplazisi, göz ve diş anomalileri, deri atrofisi ve ufak vücut yapısı ile karakterizedir. Bu olguların %15’inde mental retardasyon görülmektedir. Süt çocuğu döneminde yaşamı tehdit eden solunum problemleri, küçük burun delikleri ya da küçük çeneye ikincil glossoptozis ve trakeomalaziye bağlı solunum yolu tıkanıklığı nedeniyle görülmektedir. Bu yazıda, HSS’nun özelliklerini taşıyan 2 aylık bir olgu sunulmuştur.

Anahtar Kelimeler:

Doğumsal katarakt, Hallermann Streiff sendromu, Natal diş, Trakeomalazi

Hallermann Streiff Syndrome: A Case Report

Hallermann Streiff Syndrome (HSS) (OMIM 234100) also known as oculo-mandibulo-dyscephaly is a rare disorder that is principally diagnosed by multiple congenital anomalies localized in the head and neck region. This syndrome is usually sporadic and characterized by a bird-like face, mandibular and maxillary hypoplasia, ocular and dental abnormalities, skin atrophy and short stature. Fifteen percent of the patients are mentally retarded. They may have life-threatening respiratory problems during early infancy because of the small nares and glossoptosis secondary to micrognathia and tracheomalacia. In this report, we present a 2 -month-old girl with typical clinical features of the Hallermann Streiff syndrome

Keywords:

Congenital cataract, Hallermann Streiff syndrome, Natal teeth, Tracheomalacia,

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