Sclerosteosis is one of the rare, potentially lethal, autosomal recessive, progressive, craniotubular sclerosing bone dysplasias. Syndactyly of the second and third or other fingers is evident at birth. Hyperostosis and sclerosis are most prominent in the skull and tubular bones, and are frequently
Pallister-Hall syndrome (PHS) is an extremely rare syndrome of unknown prevalence with autosomal dominant inheritance due to GLI3 gene mutations classically characterized by the presence of a hypothalamic hamartoma and polydactyly. Additional diagnostic criteria include bifid epiglottis,
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