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- W4244094927 abstract "Pallister–Hall syndrome and Greig cephalopolysyndactyly syndrome are allelic pleiotropic developmental anomaly syndromes caused by mutations in GLI3. In spite of the fact that they are allelic and have a wide range of severity, the two syndromes are clinically distinct and rarely confused. Frequent manifestations of Pallister–Hall syndrome include hypothalamic hamartoma with or without pituitary dysplasia and endocrine dysfunction, mesoaxial and postaxial polydactyly, bifid epiglottis or laryngeal cleft, and imperforate anus. Individuals with typical Greig cephalopolysyndactyly syndrome have macrocephaly, widely spaced eyes, and postaxial or preaxial polydactyly and cutaneous syndactyly. Both disorders are rare (less than 1/500,000), but rapid recognition, especially of Pallister-Hall syndrome, is critical for making early management decisions." @default.
- W4244094927 created "2022-05-12" @default.
- W4244094927 creator A5042514001 @default.
- W4244094927 date "2020-10-30" @default.
- W4244094927 modified "2023-09-26" @default.
- W4244094927 title "PALLISTER–HALL SYNDROME AND GREIG CEPHALOPOLYSYNDACTYLY SYNDROME" @default.
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- W4244094927 doi "https://doi.org/10.1002/9781119432692.ch44" @default.
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