| Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? | |
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MedLine Citation:
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PMID: 20583178 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1 gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis described by Stevenson et al. [2007] and the case with Johnson-McMillin syndrome described by Cushman et al. [2005]. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson-McMillin syndrome. |
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Authors:
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Roseli Maria Zechi-Ceide; Maria Leine Guion-Almeida; Fernanda Sarquis Jehee; Katia Rocha; Maria Rita Santos Passos-Bueno |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-07-01 Completed Date: 2010-09-29 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1838-40 Citation Subset: IM |
Copyright Information:
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(c) 2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil. roselizc@centrinho.usp.br |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alopecia
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complications* Child, Preschool Cleft Palate / complications* Coloboma / complications* Eyelids / abnormalities* Female Humans Infant Infant, Newborn Mandibulofacial Dysostosis / complications* Pregnancy Syndrome |
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