Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome |
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Authors: | Cosar Hese Kahramaner Zelal Erdemir Aydin Turkoglu Ebru Kanik Ali Sutcuoglu Sumer Onay Hüseyin Alpman Asude Ozkinay Ferda Ozer Esra Arun |
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Affiliation: | Department of Neonatology, Tepecik Training and Research Hospital, Izmir, Turkey. |
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Abstract: | Crisponi syndrome is a recently described rare autosomal recessive disorder. The main clinical features of the syndrome are neonatal onset of episodic contractions of the facial muscles with trismus and abundant salivation resembling a tetanic spasm. Herein, we report a case of 3-day-old male neonate presenting with trismus, abundant salivation, feeding difficulties, camptodactyly, and hyperthermia, which are consistent with the diagnostic criteria of Crisponi syndrome. The parents of the patient were consanguineous, supporting autosomal recessive inheritance. Molecular analysis revealed a homozygous mutation in cytokine receptor-like factor-1 gene in the patient. |
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