| Congenital hypothyroidism in Young-Simpson syndrome. | |
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MedLine Citation:
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PMID: 19189705 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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S Stagi; G Bindi; E Lapi; M L Giovannucci-Uzielli; R Salti; F Chiarelli |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of pediatric endocrinology & metabolism : JPEM Volume: 21 ISSN: 0334-018X ISO Abbreviation: J. Pediatr. Endocrinol. Metab. Publication Date: 2008 Nov |
Date Detail:
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Created Date: 2009-02-04 Completed Date: 2009-02-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9508900 Medline TA: J Pediatr Endocrinol Metab Country: England |
Other Details:
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Languages: eng Pagination: 1089-92 Citation Subset: IM |
Affiliation:
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Paediatric Endocrinology Unit, Department of Paediatrics, University of Florence, A. Meyer Children's Hospital, Florence, Italy. stefano.stagi@yahoo.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology* Blepharophimosis / pathology* Child, Preschool Congenital Hypothyroidism / diagnosis* Facial Bones / abnormalities Facies Humans Male Mental Retardation / pathology* Syndrome Thyroid Gland / pathology, radionuclide imaging, ultrasonography |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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