title: Imperforate anus, bilateral hydronephrosis, bilateral undescended testes and pituitary hypoplasia: a variant of Hall-Pallister syndrome or a new syndrome.
abstract: A patient with multiple congenital malformations, including imperforate anus, bilateral cryptorchidism and microphallus, is described. At 4 months of age the infant had generalized convulsions and hypoglycaemia. Bilateral hydronephrosis was diagnosed at 8 months of age. At 10 months he was diagnosed as having panhypopituitarism secondary to anterior pituitary hypoplasia, shown on CT and MRI scans. This clinical picture partially resembles that of Hall-Pallister syndrome. However, the absence of some typical features such as craniofacial and limb abnormalities and, above all, hypothalamic hamartoblastoma, would also suggest the possibility of a new, previously unreported, syndrome.
authors.affiliation: Department of Paediatrics, Tor Vergata University, Rome, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Cianfarani
authors.forename: S
authors.initials: S
authors.lastname: Vitale
authors.forename: R
authors.initials: R
authors.lastname: Stanhope
authors.forename: B
authors.initials: B
authors.lastname: Boscherini
mesh_terms: D000596:Amino Acids / Q000627:therapeutic use; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D001006:Anus, Imperforate / Q000150:complications* / Q000601:surgery; D003456:Cryptorchidism / Q000150:complications*; D004829:Epilepsy, Generalized / Q000209:etiology; D013006:Growth Hormone / Q000627:therapeutic use; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D006869:Hydronephrosis / Q000150:complications* / Q000601:surgery; D007018:Hypopituitarism / Q000150:complications* / Q000188:drug therapy; D007037:Hypothyroidism / Q000150:complications / Q000188:drug therapy; D007223:Infant; D008297:Male; D013577:Syndrome; D013974:Thyroxine / Q000627:therapeutic use
chemical_list: D000596:Amino Acids; D000893:Anti-Inflammatory Agents; D013006:Growth Hormone; D013974:Thyroxine; D006854:Hydrocortisone