Curry-Jones Syndrome (CRJS)
摘要
First described by Cynthia Curry and Marilyn Jones in 1987, Curry-Jones Syndrome (CRJS) is a rare congenital multisystem disorder characterized by unicoronal craniosynostosis, cerebral malformations including agenesis of the corpus callosum, polysyndactyly, patchy skin lesions, ectopic hair growth, and abnormalities of the eyes and gastrointestinal tract (Grange et al. 2008; Mingarelli et al. 1999; Temple et al. 1995; Thomas et al. 2006; Twigg et al. 2016). Congenital anomalies in these individuals, such as polydactyly and cutaneous syndactyly, are evident at birth, whereas patchy skin lesions and facial asymmetry, though possibly present at birth, become more apparent later in the neonatal period or beyond. Gastrointestinal symptoms have been described as early as 8 days of age (Temple et al. 1995) (Fig. 1).