title: Familial Pallister-Hall syndrome: case report and hormonal evaluation.
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.
authors.affiliation: Department of Pediatrics, Children's Hospital of New Jersey, Newark 07107.
authors.forename: I N
authors.initials: IN
authors.lastname: Sills
authors.forename: R
authors.initials: R
authors.lastname: Rapaport
authors.forename: L P
authors.initials: LP
authors.lastname: Robinson
authors.forename: C
authors.initials: C
authors.lastname: Lieber
authors.forename: L Y
authors.initials: LY
authors.lastname: Shih
authors.forename: M N
authors.initials: MN
authors.lastname: Horlick
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: F
authors.initials: F
authors.lastname: Desposito
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D006222:Hamartoma / Q000235:genetics; D006801:Humans; D007018:Hypopituitarism / Q000151:congenital / Q000235:genetics*; D007028:Hypothalamic Hormones / Q000172:deficiency*; D007029:Hypothalamic Neoplasms / Q000151:congenital / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome; D013963:Thyroid Hormones / Q000172:deficiency
chemical_list: D007028:Hypothalamic Hormones; D013963:Thyroid Hormones