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- W2029722850 abstract "Pallister-Hall syndrome is a usually lethal dysplasia/malformation syndrome characterized by hypothalamic hamartoblastoma, hypopituitarism, postaxial polydactyly, craniofacial malformations, imperforate anus, and other malformations. We report a familial case in a male infant and his female sib fetus, suggesting autosomal recessive inheritance, or germinal mosaicism for an autosomal dominant mutation, or a segregating submicroscopic chromosome abnormality. Detailed endocrine evaluation on the surviving infant revealed documented pituitary function, pituitary deficit, and hypothalamic deficiency. We suggest that hypothalamic dysfunction contributes to the hypopituitarism seen in pallister-Hall syndrome. © 1993 Wiley-Liss, Inc." @default.
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- W2029722850 date "1993-09-01" @default.
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- W2029722850 title "Familial pallister-hall syndrome: Case report and hormonal evaluation" @default.
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- W2029722850 doi "https://doi.org/10.1002/ajmg.1320470305" @default.
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