Familial syndrome with panhypopituitarism, hypoplasia of the hypophysis, and poorly developed sella turcica.
Two sisters who died at the age of 2.5 years and 5 weeks are described. Both showed signs of panhypopituitarism. At necropsy, no hypophysis could be found in the first child and a rudimentary and partly ectopic hypophysis was found in the other. Both children had a flat, poorly developed sella turcica, and the sellar anomaly could be seen in skull x-rays. These patients represent a hereditary syndrome characterised by neonatal panhypopituitarism, hypoplasia of the pituitary gland, and flat sella turcica.
D002675:Child, Preschool; D005260:Female; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics*; D007223:Infant; D010902:Pituitary Gland / Q000002:abnormalities*; D011859:Radiography; D012658:Sella Turcica / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome