| Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome. | |
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MedLine Citation:
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PMID: 20219704 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Strømme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly and developmental delay. To date, this condition was described in a couple of sibs and 7 additional sporadic patients. We report on a 11-month-old female, who requested surgical correction for jejunal atresia shortly after birth and also presented with megalocornea and persistence of the pupillary membrane. Microcephaly and developmental delay were absent at last examination. An oligonucleotide CGH-array analysis excluded cryptic chromosome rearrangement(s). Comparison of the previously published and present patients added some details on the natural history of Strømme syndrome. Delivery is usually performed preterm possibly due to polyhydramnios. Birth parameters, especially head circumference, are commonly at the lower end of the normal range. Microcephaly is more frequently but not constantly observed in older individuals, thus suggesting a progressive course, and may relate to an underlying neuronal migration defect. Jejunal atresia has an apple peel appearance in most but not all patients and its post-surgical course is usually uneventful. The ocular phenotype comprises a wide range of anterior chamber anomalies with sclerocornea/corneal leukoma being the most common. |
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Authors:
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Marco Castori; Luigi Laino; Vito Briganti; Lucia Pedace; Andrea Zampini; Mario Marconi; Barbara Grammatico; Elsa Buffone; Paola Grammatico |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-02-26 |
Journal Detail:
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Title: European journal of medical genetics Volume: 53 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2010 May-Jun |
Date Detail:
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Created Date: 2010-05-17 Completed Date: 2010-10-12 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 149-52 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy. mcastori@scamilloforlanini.rm.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis Comparative Genomic Hybridization Developmental Disabilities / diagnosis Eye / pathology Eye Abnormalities / physiopathology* Female Humans Infant Intestinal Atresia / complications* Microcephaly / diagnosis Syndrome |
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