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
Related Articles
- EP ID EP762091
- DOI 10.3969/j.issn.1002-0152.2025.01.008
- Views 12
- Downloads 0
Progress of long chain non-coding RNAs in the inflammatory response to cerebral ischemia-reperfusion injury
Inflammatory response is one of the key mechanisms of cerebral ischemia/reperfusion injury (CIRI), which seriously affects the prognosis of patients. In recent years, it has been found that long non-coding RNA (LncRNA) i...
Research progress of eye tracking technology in cognitive impairment of neurodegenerative diseases
Eye tracking technique is an examination method to record eye movements and gaze position over time and task, common eye movement parameters include sweep, smooth pursuit, gaze, and visual search. Neurodegenerative disea...
Clinical characteristics of late-life depression patients with venous thromboembolism in the elderly ward
[Objective] To analyze the clinical characteristics and related to risk factors of late-life depression patients with venous thromboembolism in the elderly ward. [Methods] A retrospective analysis was conducted on 143 ho...
Influence factors of comorbidity between gaming disorder and depression among adolescents
The comorbidity of online game disorder and depression has become a universal problem in the world, which seriously affects the physical and mental health of teenagers. Online game disorder closely relate to depression o...
Association of cerebral white matter lesions with systolic and diastolic blood pressure
[Objective] To investigate the association of cerebral white matter lesions (WMLs) with systolic and diastolic blood pressure. [Methods] Patients admitted to our department from January 2023 to December 2023 were prospec...