Early-onset sensorineural hearing loss is a prominent feature of H ... pubmed.ncbi.nlm.nih.gov › ...
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H syndrome is a novel form of histiocytosis with autosomal recessive inheritance and ... The patient also had hearing loss for more than 5 years which was ...
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Sensorineural hearing loss is the second most common manifestation. Additional features include heart anomalies, hepatosplenomegaly, lymphadenopathy, ...
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4 Ara 2021 · Sensorineural hearing loss is a distinctive feature of the H syndrome [7, 12]. It can be congenital, has a sudden onset, or be slowly ...
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14 Tem 2020 · Sensorineural hearing loss is the third most common clinical finding (53%). Short stature is seen in 49%, hepatomegaly in 43%, and splenomegaly ... CASE HISTORY · DIFFERENTIAL DIAGNOSIS... · DISCUSSION
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Her clinical phenotype included short stature, hypogonadotropic hypogonadism, hearing loss, hypothyroidism, heart involvement, and hyperpigmentation with ...
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Keywords: SLC29A3 gene, H syndrome, Rosai–Dorfman disease, Histiocytosis, Genodermatosis, ... experienced a bilateral hearing loss that started during.
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17 Eki 2017 · Less than 100 patients with H syndrome have been described in the ... sensorineural hearing loss, short stature, and hepatosplenomegaly ...
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The term “H Syndrome” is representative of presentation with hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, ...
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Sir,. H syndrome (OMIM 602782) is an autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss ...
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Major systemic features include hearing loss, heart anomalies, hepatosplenomegaly, hypogonadism and hyperglycemia. A hallmark of this syndrome is the cutaneous ...
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27 May 2015 · In addition, he had had sensorineural hearing loss since the age of 7 years and insulin-dependent diabetes mellitus (IDDM) since the age of ...
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H syndrome (OMIM 612391) is an autosomal recessive disease with some ... Regarding family history, his sister had an isolated hearing loss without any other ...
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H syndrome (Online Mendelian Inheritance in Man, 602782) is an autosomal ... Phalangeal flexion contractures, hearing loss, and short stature are also ...
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8 Haz 2018 · H syndrome is a multisystemic disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, ...
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