학술논문
A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)
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- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Soo Kyoung Kim So Yoon Jung Seong Phil Bae Jieun Kim Jeongho Lee Dong Hwan Lee
- 간행물 정보
- 『대한의학유전학회지』제16권 제2호, 81~84쪽, 전체 4쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2019.12.30
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국문 초록
영문 초록
Clinicians often have difficulties diagnosing patients with subtle phenotypes of Noonan syndrome phenotypes. Facial recognition technology can help in the identification of several genetic syndromes with facial dysmorphic features, especially those with mild or atypical phenotypes. A patient visited our clinic at 5 years of age with short stature. She was administered growth hormone treatment for 6 years, but her growth curve was still below the 3rd percentile. She and her mother had wide-spaced eyes and short stature, but there were no other remarkable features of a genetic syndrome. We analyzed their photographs using a smartphone facial recognition application. The results suggested Noonan syndrome; therefore, we performed targeted next-generation sequencing of genes associated with short stature. The results showed that they had a mutation on the PTPN11 gene known as the pathogenic mutation of Noonan syndrome. Facial recognition technology can help in the diagnosis of Noonan syndrome and other genetic syndromes, especially in patients with mild phenotypes.
목차
Introduction
Case
Discussion
References
해당간행물 수록 논문
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- Periventricular nodular heterotopia in a child with a mild Mowat-Wilson phenotype caused by a novel missense mutation of ZEB2
- A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis
- A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)
- Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review
- Identification of Potocki-Lupski syndrome in patients with developmental delay and growth failure
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