| Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome. | |
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MedLine Citation:
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PMID: 22138217 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a rare malformation syndrome consisting of multiple, mainly midline defects. Some authors suggest that it is a mild manifestation of the wide spectrum of holoprosencephaly, others classify it rather as a distinct entity. Authors report a case of SMMCI presenting with growth retardation, mild intellectual disability and absence of puberty. Cytogenetic and molecular cytogenetic investigations could identify no abnormalities. The presence of a single maxillary incisor called for further investigations to clarify hidden anomalies, these were empty sella, panhypopituitarism, hypothyroidism, and hypoplasia of the inner genitals. Based on the above findings, growth hormone, estrogen, and L-thyroxine substitution was introduced, which resulted in satisfactory longitudinal growth and onset of sexual maturation. We suggest genetic counselling and if needed, invasive investigations in female patients with short stature and absent/delayed puberty, with or without sex chromosomal anomalies, as the adequate therapy and even the quality of life of patient depends largely on the knowledge of their anatomical and endocrine status. |
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Authors:
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Katalin Szakszon; Enikő Felszeghy; István Csízy; Tamás Józsa; Rita Káposzta; Erzsébet Balogh; Eva Oláh; István Balogh; Ervin Berényi; Alida C Knegt; István Ilyés |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-11-17 |
Journal Detail:
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Title: European journal of medical genetics Volume: - ISSN: 1878-0849 ISO Abbreviation: - Publication Date: 2011 Nov |
Date Detail:
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Created Date: 2011-12-5 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Inst. of Pediatrics, Clinical Genetics Center, University of Debrecen, Medical & Health Science Center, 4012 Debrecen, Nagyerdei krt. 98., Hungary. |
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