منابع مشابه
Lipoid proteinosis: Report of three cases in one family
Lipoid proteinosis, a rare autosomal recessive disorder, presents in early childhood with hoarseness, skin infiltration and thickening, beaded papules on eyelid margins, and facial acneiform or pock- like scars. Although
متن کاملlangerhans cells histiocytosis in one family
histiocytosis of langerhans cells (class 1 histiocytosis) consists of a range of clinical manifestations, including bone eosinophilic granuloma, hand-schüller-christian syndrome, and letterer-siwe disease. these syndromes represent a spectrum of severity and prognosis of an underlying disorder which is usually sporadic. this report describes three cases in one family, who developed the disease ...
متن کاملTibiofibular torsion in congenital clubfoot.
Tibiofibular torsion was measured by computed tomography in three series of patients affected by congenital clubfoot who were treated with different protocols. The normal leg of unilateral deformities served as the control. For the bilateral cases, only the right side was included in the study. The angle between the bicondylar axis of the tibia and the bimalleolar axis was the index of tibiofib...
متن کاملRecurrent Laryngeal Nerve Paralysis in a Patient with Primary Thyroid Tuberculosis (Report of One Case)
Vocal cords paralysis is not a rare entity and is usually caused by malignant thyroid tomors, and major thyroid & neck surgeries, nontheless it has some unusual and even idiopathic causes as well. This is a report of a case with the primary tuberculosis of thyroid gland which has been confirmed both pathologicaly and microbiologically. The lesion was on the same side of paralysis and had advanc...
متن کاملFamilial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.
Clubfoot is a common musculoskeletal birth defect for which few causative genes have been identified. To identify the genes responsible for isolated clubfoot, we screened for genomic copy-number variants with the Affymetrix Genome-wide Human SNP Array 6.0. A recurrent chromosome 17q23.1q23.2 microduplication was identified in 3 of 66 probands with familial isolated clubfoot. The chromosome 17q2...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2017
ISSN: 0960-7692
DOI: 10.1002/uog.18428