• Clinical and Experimental Pediatrics
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• 제48권9호
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• pp.1016-1018
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• 2005

Young Simpson 증후군은 선천성 갑상선 기능 저하, 특이한 얼굴 생김새, 정신 지체, 심한 성장 지연, 근력 저하, 선천성 심장 기형을 특징으로 하는 드문 질환으로 국내에서는 보고된 적이 한 번도 없는 질환이다. 저자들은 Young Simpson 증후군인 4살 여아를 경험하였기에 문헌 고찰과 함께 국내 최초로 보고하는 바이다.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.147-151
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• 2021

The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.