A case of adult-type Sifrim-Hitz-Weiss syndrome

VernacularTitle:成年型Sifrim-Hitz-Weiss综合征1例
Author: Yuchen WU ¹ ; Fangyuan QIAN ¹ ; Shiyao ZHANG ¹ ; Hui XU ¹ ; Xiaojin WEI ¹ ; Yuhan XU ¹ ; Caiyan WANG ¹ ; Ziyue DONG ¹ ; Jiale JI ¹ ; Yijing GUO ¹
Author Information

1. 东南大学,东南大学附属中大医院神经内科(南京 210009)
Publication Type:Journal Article
Keywords: SIHIWES; CHD4 neurodevelopmental disorder; CHD4 gene; Developmental delay; Whole-exon se-quencing technology; Autosomal dominant inheritance disease
From: Chinese Journal of Nervous and Mental Diseases 2025;51(1):45-47
CountryChina
Language:Chinese
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.