| New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies. | |
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MedLine Citation:
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PMID: 21995818 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Congenital circumferential skin folds can be found in individuals with no additional defects, as well as in patients with multiple congenital anomalies and developmental abnormalities. Current data point to etiological heterogeneity of syndromic cases. We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, dysmorphic features, and multiple congenital abnormalities. Examination of the patient revealed symmetrical congenital circumferential skin folds and dysmorphic features, as well as multiple congenital anomalies including nasal pyriform aperture stenosis, ventricular septal defect, absent spleen, camptodactyly, and severe psychomotor retardation. Skin biopsy demonstrated subcutaneous fat extending into the superficial and deep reticular dermis. Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations. Extensive review of previously described cases of syndromic congenital circumferential skin folds did not reveal a similar combination of clinical and histopathological findings. |
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Authors:
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Lina Basel-Vanagaite; Eli Sprecher; Andrea Gat; Paul Merlob; Adi Albin-Kaplanski; Osnat Konen; Benjamin D Solomon; Maximilian Muenke; Karl-H Grzeschik; Lea Sirota |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-10-13 |
Journal Detail:
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Title: Pediatric dermatology Volume: - ISSN: 1525-1470 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8406799 Medline TA: Pediatr Dermatol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2011 Wiley Periodicals, Inc. |
Affiliation:
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Schneider Children's Medical Center of Israel and Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel Department of Pathology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel Department of Neonatology, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel Department of Imaging, Schneider Children's Medical Center of Israel, Petah Tikva, Israel Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland Department of Human Genetics, University of Marburg, Marburg, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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