Triple-X syndrome accompanied by Chilaiditi syndrome in preterm infant: a case report
نویسندگان
چکیده
منابع مشابه
Triple-x syndrome accompanied by congenital adrenal hyperplasia: case report.
The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11beta-hydroxylase deficiency is identified. The case was referred to the Endocrinology Unit at six days of age because of ambiguous genitalia. The karyotype in this case was 47,XXX, an unexpected...
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Facial, oral, and dental findings of an 11-year-old girl with XXX syndrome are reported. Clinical examination reveals midfacial hypoplasia, congenital absence of teeth, and solitary maxillary central incisors both in primary and permanent dentitions.
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In this article Pendred's syndrome, which is the combination of - congenital goitre with deafmutism, is discussed. This type of goitre is due to a special enzymatic defect, involving a process of hormonogenesis, which is respon-· sible for the incorporation of iodide in the tyrosine molecule. A case of pendred's syndrome is presented in a 16-year-old girl. This girl has never been able to...
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ژورنال
عنوان ژورنال: Medical Science and Discovery
سال: 2016
ISSN: 2148-6832,2148-6832
DOI: 10.17546/msd.98734