Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia).
نویسندگان
چکیده
منابع مشابه
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?
A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and against the two most likely diagnoses of frontometaphyseal dysplasia and craniometaphyseal dysplasia is considered.
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The syndrome of familial hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR syndrome) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p. Although first described years ago, but the disease is considered to be very rare. Patients usually present with hypocalcemia, tetany, or afebrile convulsions at any age. Hearing los...
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Oto-spondylo-megaepiphyseal dysplasia (OSMED) is considered to be an autosomal recessive disorder characterized by sensorineural hearing loss, short extremities in spite of normal body length, and abnormally thick joints. We present audiologic results and follow-up of two siblings (normal mother, affected father, 3 of 4 affected children). Given the severity of the hearing loss and, in some cas...
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A family is presented with short stature, femoral epiphyseal dysplasia, mild vertebral changes, and sensorineural deafness inherited as an autosomal dominant trait. Myopia and retinal detachment presenting in adult life were also present in some affected members. We suggest that this disorder may be a distinct entity within the spondyloepiphyseal dysplasia group of disorders.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 19 2 شماره
صفحات -
تاریخ انتشار 1982