CHAND Syndrome (CHANDS)
摘要
The primary instance of CHAND syndrome was initially elucidated by Baughmann in 1971 within a consanguineous Dutch family. The afflicted individual exhibited distinctive phenotypic characteristics, including curly hair and hypoplastic nails concomitant with congenital ankyloblepharon (Baughman Jr 1971). The nomenclature of the syndrome succinctly encapsulates the triad of features defining its original characterization: (1) curly hair, (2) ankyloblepharon, and (3) nail dysplasia. Subsequent to its inaugural discovery, CHAND syndrome has been identified in additional cases, evidencing a broader clinical spectrum with manifestations such as bilateral commissural lip pits and oral frenula (Busa et al. 2017). All reported instances of CHAND syndrome share the commonality of diagnosis in early childhood. Gender distribution, as indicated by previous research, suggests an apparent impact on both sexes (Busa et al. 2017; Gollasch et al. 2015; Baughman Jr 1971).