A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome

We report a male infant with an association of hypothyroidism and unusual f acies, including blepharophimosis, which is similar to the dysmorphic featu res observed in the condition first described by Young and Simpson [(1987) J Med Genet 24:715-716]. On the other hand, the patient also shares many fe atures with those reported as having Ohdo blepharophimosis syndrome [Ohdo e t al., (1986) J Med Genet 23:242-244]. Previous case reports are reviewed a nd difficulties concerning the differential diagnosis of these conditions a re discussed. Clin Dysmorphol 9: 199-204 (C) 2000 Lippincott Williams & Wil kins.