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.
|Number of pages||3|
|Journal||Acta Paediatrica, International Journal of Paediatrics|
|Publication status||Published - 1995|
- Imperoforate anus
- Pituitary hypoplasia
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health