Hypothalamic hamartoma associated with multiple congenital abnormalities -Two patients and a review of reported cases

We report 2 patients with hypothalamic hamartoma associated with multiple c ongenital abnormalities and analyze 42 (including our own) reported cases, including our 2 cases, of hypothalamic hamartoma or hypothalamic hamartobla stoma with multiple congenital abnormalities, to understand the timing of t heir occurrence and clarify the prognosis. To this end, we classified them into lethal and nonlethal cases. We found poly- and syndactyly, cleft or hi gh-arched palate and nose abnormalities to be important manifestations of t his syndrome. Major organ abnormalities and CNS and endocrine abnormalities occurred frequently among the lethal cases, very likely indicative of a di sturbance of embryogenesis between gestational days 34-37 and thus implicat ed in a negative prognosis.