Congenital hypothyroidism in Young-Simpson syndrome.
We describe a patient with the clinical spectrum of Young-Simpson syndrome. This rare genetic disorder is characterized by congenital hypothyroidism, mental retardation and blepharophimosis. Young-Simpson syndrome is, at present, poorly known to endocrinologists and pediatricians, and should be included in the differential diagnosis of congenital hypothyroidism. It is important to underline that the association of congenital hypothyroidism, blepharophimosis and ptosis allows an exact clinical diagnosis, since the majority of other clinical aspects are common to other disorders.
Stagi
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S
Paediatric Endocrinology Unit, Department of Paediatrics, University of Florence, A. Meyer Children's Hospital, Florence, Italy. stefano.stagi@yahoo.it
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Lapi
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Giovannucci-Uzielli
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Salti
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Chiarelli
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D000015:Abnormalities, Multiple / Q000473:pathology*; D016569:Blepharophimosis / Q000473:pathology*; D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000175:diagnosis*; D005147:Facial Bones / Q000002:abnormalities; D019066:Facies; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D011877:Radionuclide Imaging; D013577:Syndrome; D013961:Thyroid Gland / Q000000981:diagnostic imaging / Q000473:pathology; D014463:Ultrasonography