کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2814485 1569526 2010 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 53, Issue 3, May–June 2010, Pages 149–152
نویسندگان
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