• 제목/요약/키워드: Hanyang

검색결과 20,102건 처리시간 0.05초

Pituitary Adenoma Accompanying Sphenoidal Meningoencephalocele with Clival Extension

  • Kim, Tae-Joon;Kim, Choong-Hyun;Cheong, Jin-Hwan;Kim, Jae-Min
    • Journal of Korean Neurosurgical Society
    • /
    • 제38권3호
    • /
    • pp.242-244
    • /
    • 2005

  • Encephaloceles are known as rare craniofacial developmental anomalies which are herniation of cranial contents through a skull defect. Sphenoidal meningoencephalocele represents an important cause of reversible visual loss. We report a rare case of pituitary adenoma accompanying sphenoidal meningoencephalocele with clival extension. Although the definitive diagnosis of cystic lesions in the sellar region before surgery is difficult, accurate diagnosis of these lesions is important to determine the type of treatment and predict prognostic outcome.

  • PDF KSCI

Identification of a likely pathogenic variant of YY1 in a patient with developmental delay

  • Bae, Soyoung;Yang, Aram;Ahn, Ja-Hye;Kim, Jinsup;Park, Hyun Kyung
    • Journal of Genetic Medicine
    • /
    • 제18권1호
    • /
    • pp.60-63
    • /
    • 2021

  • Gabriel-de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel-de Vries syndrome.

  • https://doi.org/10.5734/JGM.2021.18.1.60 인용 PDF KSCI