Uzunalic N, Zenciroglu A, Beken S, Piras R, Dilli D, Aydin B, Chiappe F, Okumus N, Crisponi L
Department of Neonatology, Dr Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey.
Genet Couns. 2013;24(2):161-6.
Crisponi syndrome (CS) is a rare, autosomal recessive disorder, characterized by hyperthermia, extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Recently, it has been demonstrated that CRLF1 (cytokine receptor-like factor 1) gene mutation is associated with CS. Here we report a case of CS with a new mutation in the CRLF1 gene associated with moderate clinical phenotype.
克里斯波尼综合征（CS）是一种罕见的常染色体隐性疾病，其特征为体温过高、即使受到极小刺激或哭闹后脸部也会出现广泛肌肉收缩、张力亢进、角弓反张、屈曲指畸形以及典型的面部特征。最近，已有研究表明细胞因子受体样因子1（CRLF1）基因突变与克里斯波尼综合征相关。在此，我们报告一例患有与中度临床表型相关的CRLF1基因新突变的克里斯波尼综合征病例。
