| Multiple pterygium syndrome: mimicking the findings of Turner syndrome. | |
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MedLine Citation:
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PMID: 22308873 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Multiple pterygium syndrome (MPS or Escobar syndrome) is a rare, generally autosomal recessive disorder characterized by multiple congenital joint contractures and multiple skin webs. An 11.5-year-old girl with a working diagnosis of Turner syndrome (TS) was referred for her phenotypic features and growth retardation. Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, hypertelorism, micrognathia, low-set ears, downturning corners of the mouth, long philtrum, high-arched palate, digital and intercrural webbings, and aplasia of the labia majora were indicative of MPS (Escobar syndrome). Her mental status was normal. Facial asymmetry was present due to cervical webs. Normal karyotype, gonadal functions, and cardiac and urinary system findings helped in excluding TS. Genetic diseases associated with skin webs were revised in differential diagnosis. |
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Authors:
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Ayla Güven; Heves Kirmizibekmez |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of pediatric endocrinology & metabolism : JPEM Volume: 24 ISSN: 0334-018X ISO Abbreviation: J. Pediatr. Endocrinol. Metab. Publication Date: 2011 |
Date Detail:
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Created Date: 2012-02-07 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9508900 Medline TA: J Pediatr Endocrinol Metab Country: Germany |
Other Details:
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Languages: eng Pagination: 1089-93 Citation Subset: IM |
Affiliation:
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Clinics of Pediatric Endocrinology, Göztepe Educational and Research Hospital, Dr. Erkin Caddesi Eğitim, Kadiköy, Istanbul, Turkey. aylaguven@yahoo.com |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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