A case of adult-type Sifrim-Hitz-Weiss syndrome
Journal Title: Chinese Journal of Nervous and Mental Diseases - Year 2025, Vol 51, Issue 1
Abstract
A case of Sifrim-Hitz-Weiss syndrome (Sifrim-Hitz-Weiss syndrome, SIHIWES) is presented. The patient was a 35-year-old male with cryptorchidism, growth retardation, skeletal malformations, muscular atrophy, a wide forehead, special facial features like square face, small low-set and cup-shaped ears since birth. Whole-exon sequencing identified a heterozygous mutation (NM_001273: c.3047A>G(chr12-6701125) (p.K1016R)) in CHD4 gene. The clinical significance of this mutation is currently unknown, and has not been previously reported. In light of the patient’s symptoms, the case was diagnosed as Sifrim-Hitz-Weiss syndrome. This case represents the first instance of Sifrim-Hitz-Weiss syndrome in an adult patient in China.
Authors and Affiliations
Yuchen WU, Fangyuan QIAN, Shiyao ZHANG, Hui XU, Xiaojin WEI, Yuhan XU, Caiyan WANG, Ziyue DONG, Jiale JI, Yijing. GUO
Keywords
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- EP ID EP762091
- DOI 10.3969/j.issn.1002-0152.2025.01.008
- Views 10
- Downloads 0
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