Gomez-Lopez-Hernández syndrome: First reported case from the Indian subcon-tinent
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چکیده
منابع مشابه
Gomez-Lopez-Hernandez syndrome
Gomez-Lopez-Hernandez syndrome is a rare form of cerebellotrigeminal dermal dysplasia, first documented by Gómez and reported by López-Hernández. It comprises mainly neurological, dysmorphic and cutaneous symptoms. The genetic basis of this sporadic disorder GLH is not yet clear. De novo chromosomal arrangements or spontaneous dominant mutations may represent possible explanations. Identificati...
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Gomez-Lopez-Hernandez syndrome (GLHS) is a rare syndrome comprising the triad rhombencephalosynapsis (RS), parietal alopecia, and trigeminal anesthesia. Other typical findings are skull abnormalities, craniofacial dysmorphic signs, and short stature. Intellectual impairment is typical but cases with normal cognitive functions have also been reported. Only 15 cases of GLHS have been described so...
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Reactive airway dysfunction syndrome (RADS) is a type of non-immunologically mediated asthma-like disease. It usually occurs after a massive exposure to an irritating substance in the atmosphere in the form of smoke, fumes, gases, and vapor. Unlike bronchial asthma, there is no latency to the symptoms seen in RADS. A number of agents are known to cause RADS, but tile dust, as an etiological age...
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7q11.23 duplication syndrome is a disease caused by duplication of a region of chromosome 7 comprising 26 genes. The first case described in the literature was reported by Somerville et al. in 2005, who described a patient with dolichocephaly, high and narrow forehead, long eyelashes, high and wide nose, short philtrum, high arched palate, dental malocclusion, retrognathia, and severe language ...
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ژورنال
عنوان ژورنال: Intractable & Rare Diseases Research
سال: 2017
ISSN: 2186-361X,2186-3644
DOI: 10.5582/irdr.2016.01074