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 facies, including blepharophimosis, which is similar to the dysmorphic features observed in the condition first described by Young and Simpson [(1987) J Med Genet 24:715-7161. On the other hand, the patient also shares many features with those reported as having Ohdo blepharophimosis syndrome [Ohdo et al, (1986) J Med Genet 23:242-244]. Previous case reports are reviewed and difficulties concerning the differential diagnosis of these conditions are discussed.
Marques-de-faria
A P
AP
Departamento de Genética Médica, Universidade Estadual de Campinas, SP, Brazil. dgmfcm@obelix.unicamp.br
Maciel-Guerra
A T
AT
Júnior
G G
GG
Baptista
M T
MT
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D016569:Blepharophimosis / Q000473:pathology*; D003937:Diagnosis, Differential; D006801:Humans; D007037:Hypothyroidism / Q000473:pathology*; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D013577:Syndrome