Fraser Syndrome: A Case Report

Öz

Fraser syndrome is a rare disorder with autosomal recessive inheritance. Neurodevelopmental retardation, craniofacial anomalies such as abnormal hairline, low nasal bridge, hypoplastic notched nares, cleft lip/palate, teeth crowding, cryptophtalmos, external/middle ear anomalies, and larynx malformations, umblical hernia, genitourinary system anomalies, such as clitoral hypertrophy and renal agenesis, and skeletal system anomalies, such as syndactyly are among the common findings of the syndrome. Physical examination of a 16-month-old girl, referred for neurodevelopmental delay and multiple congenital anomalies revealed motor and mental retardation besides multiple dysmorphic features and a perineal fistula with subclitoral opening. Ultrasonograpy showed a pancreatic cyst, left kidney agenesis, but no gonadal structures were present. Cerebral MRI revealed ventricular dilatation and Sylvian fissure atrophy. Chromosome analysis resulted in normal 46,XX female karyotype. Based on clinical findings, Fraser syndrome diagnosis was made. Novel features, such as perineal fistula, pancreatic cyst and Sylvian fissure atrophy in the present case support the proposed clinical variability of the Fraser syndrome. In this case report, we aimed to present our patient's clinical findings and evaluate the genetic basis of Fraser syndrome.

Anahtar Kelimeler

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Fraser Sendromu: Bir Olgu Sunumu

Öz

Fraser sendromu, otozomal resessif kalıtım modeline sahip, nadir hastalıklardan biridir. Hastalarda sık rastlanan bulgular arasında gelişim geriliği, anormal saç çizgisi, basık burun kökü, hipoplastik ve çentikli burun kanatları, yarık damak/dudak, düzensiz diş gelişimi, kriptoftalmos, dış ve orta kulak anomalileri gibi baş-yüz anomalileri, larinks malformasyonları, umblikal herni, klitoris hipertrofisi, renal agenezi gibi genitoüriner ve sindaktili gibi iskelet sistem bozuklukları bulunur. Birden fazla doğumsal anomali ve gelişim geriliği nedeniyle gönderilen 16 aylık kız çocukta yapılan muayene sonucunda, belirgin gelişim geriliğine eşlik eden birçok dismorfik bulgunun yanısıra subklitoral açılımlı perineal fistül bulunmuştur. Ultrasonografik incelemede pankreas kisti ve sol böbrek agenezisi gözlenmiş, ancak herhangi bir gonadal yapıya rastlanmamıştır. Beyin manyetik rezonans görüntülemesinde ventrikül dilatasyonu ve Sylvian fissür atrofisi belirlenmiştir. Kromozom analizinde, normal 46,XX dişi karyotipi bulunmuştur. Hastada gözlenen bulgular doğrultusunda klinik olarak Fraser sendromu tanısı konmuştur. Olgumuzda gözlenen perineal fistül, pankreas kisti ve Sylvian fissür atrofisi gibi daha önce tanımlanmamış bulgular, Fraser sendromu için ileri sürülen klinik çeşitliliği desteklemektedir. Bu olgu sunumunda, hastamızda gözlemlediğimiz bulguları bildirmeyi ve Fraser sendromunun genetik temelini değerlendirmeyi amaçladık.

Anahtar Kelimeler

• Fraser sendromu, kriptoftalmos, otozomal resessif, kalıtım

Kaynakça

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