Hanhart syndrome: hypoglossia-hypodactylia syndrome
نویسندگان
چکیده
منابع مشابه
Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?
A stillborn female with Hanhart's syndrome in association with hydrocephalus owing to stenosis of the aqueduct of Sylvius is presented. Neuropathological findings are suggestive of an acquired pathophysiological mechanism.
متن کاملAglossia-adactylia syndrome.
Aglossia-adactylia is described in two male patients, aged 31 and 21 years old. Including a previous reported case (Nevin, Dodge, and Kernohan, 1970) there are three patients with this syndrome in Northern Ireland. The aetiology is unknown but in spite of the extreme variability of the clinical manifestation, a dominant mutant gene cannot be ruled out.
متن کاملRichner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.
Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine aminotransferase enzyme. We report a 15-year-old female patient with complaints of bilateral photophobia and tearing, which started during the infancy period. Biomicroscopic examination revealed bilateral circular corneal opacities ...
متن کاملOromandibular Limb Hypogenesis Syndrome Type IIB: Case Report of Hypoglossia-Hypodactyly
Hypoglossia-hypodactyly is a rare congenital anomaly affecting the tongue and the limbs. Hall in 1971 classified it under a complex group of disorders called oromandibular limb hypogenesis syndromes. It is an extremely rare condition with around 40 cases reported in the world literature. The cause of the syndrome is unknown. Some type of intrauterine trauma is the most widely accepted etiology....
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ژورنال
عنوان ژورنال: Pan African Medical Journal
سال: 2019
ISSN: 1937-8688
DOI: 10.11604/pamj.2019.32.213.17493