{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T14:52:06Z","timestamp":1769093526391,"version":"3.49.0"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,2,22]],"date-time":"2010-02-22T00:00:00Z","timestamp":1266796800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cold\u2010induced sweating syndrome (CISS) is a rare autosomal recessive disorder caused by mutations in <jats:italic>CRLF1<\/jats:italic> (cytokine receptor\u2010like factor 1), characterized by profuse sweating in cold environmental temperature and craniofacial and skeletal features. Mutations in <jats:italic>CRLF1<\/jats:italic> also cause Crisponi syndrome (CS), characterized by neonatal\u2010onset paroxysmal muscular contractions as well as craniofacial and skeletal manifestations and abnormal functions of the autonomic nerve system. To date, it is an unresolved problem whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions or with different presentations depending on the patients' age at diagnosis. We report on a 30\u2010year\u2010old Japanese woman with CISS and homozygous out\u2010of\u2010frame 23\u2010base deletion of <jats:italic>CRLF1<\/jats:italic>. In infancy, she did not show paroxysmal muscular contractions, but showed feeding difficulty, hyperthermia, and facial characteristics including thick and arched eyebrows, a short nose with anteverted nostrils, full cheeks, an inverted upper lip, and a small mouth, resembling those observed in CS. Profuse sweating was noticed at 3 years of age. Cold\u2010induced sweating was recognized in her elementary school days. In adolescence to adulthood, she showed a Marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender face with poor expression, a distinctive nose with hypoplastic nares, malar hypoplasia, prognathism, and a small mouth. This is the first report of detailed longitudinal observation of a patient with <jats:italic>CRLF1<\/jats:italic> abnormalities, compatible with the notion that CISS and CS may be a single clinical entity. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33315","type":"journal-article","created":{"date-parts":[[2010,2,22]],"date-time":"2010-02-22T22:31:13Z","timestamp":1266877873000},"page":"764-769","source":"Crossref","is-referenced-by-count":14,"title":["Cold\u2010induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a <i>CRLF1<\/i> 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