Otopalatodigital syndrome type II.
نویسندگان
چکیده
منابع مشابه
Refined mapping of the gene for otopalatodigital syndrome type I.
Otopalatodigital syndrome type I (OPD-I) (MIM 31130) is a rare X linked disorder characterised by a peculiar face with supraorbital ridges, flat nasal bridge, hypertelorism, micrognathia, and cleft palate (pugilistic face) and by hand and foot deformities with spatulate distal digits and short first digits arising from the second digits (tree frog hands and feet), together with conductive deafn...
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The polyglandular autoimmune syndromes (PAS) comprise a wide spectrum of autoimmune disorders. There exist a juvenile (PAS I) and an adult type (PAS II). The nature of PAS has been based on the presence of lymphocyte infiltration in the affected gland, organ-specific antibodies in the serum, cellular immune defects and an association with the human leucocyte antigen (HLA) DR/DQ genes or immune ...
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The combination of autoimmune adrenal insufficiency with autoimmune thyroid disease and/or type 1 autoimmune diabetes mellitus defines autoimmune polyglandular syndrome, type II. The conditions may occur in any order, and diagnosis is confounded by the nonspecific nature of the symptoms of adrenal insufficiency and hypothyroidism. The disorder is not common, but consequences can be life threate...
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Oro-facial-digital syndrome type II (OFD-II) is characterized by frenulated tongue, midline cleft lip, high arched or cleft palate, micrognathia, syndactyly and polydactyly, bilateral reduplicated hallux, conductive hearing loss, choroidal coloboma and normal intelligence. There are nine forms of oro-facial-digital syndromes with different modes of inheritance. A young female with features of o...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1993
ISSN: 1468-6244
DOI: 10.1136/jmg.30.4.310