Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome
Makaleler > Tam Makale · 2011
Yazarlar: Hese COSAR, Zelal KAHRAMANER, Aydin ERDEMIR, Ebru TURKOGLU, Ali KANIK, Sumer SUTCUOGLU, HÜSEYİN ONAY, Asude DURMAZ, Feriştah Ferda ÖZKINAY, Esra Arun OZER
CLINICAL DYSMORPHOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2011, cilt 20, ss 187-189
DOI: 10.1097/mcd.0b013e328348836c
Özet
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. Clin Dysmorphol 20:187-189 (C) 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins.