Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report
نویسندگان
چکیده
منابع مشابه
Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report.
CONTEXT The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis. CASE REPORT Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis...
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A distinctive phenotype of severe microcephaly and self-limiting dilated cardiomyopathy has been observed in two sibs suggesting autosomal recessive inheritance. Mental retardation, delayed developmental milestones, and minor dysmorphism were additional features.
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BACKGROUND Robinow syndrome or "foetal face" syndrome is an extremely rare genetic disorder with characteristic skeletal and orofacial findings. The purpose of the present case report is to describe the clinical findings of an 8 year-old female patient with autosomal recessive Robinow syndrome. CASE REPORT The patient was born to consanguineous parents and had anomalies typical of the recessi...
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Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder presented with specific facial features, skeletal dysplasia, steroid resistance nephrotic syndrome (SRNS) and cellular immune insufficiency. This is a SIOD case reported from Iran. He was 5 years old boy when evaluated for proteinuria and short stature. In appearance, we detected hyperpigmented macules, kyphosc...
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Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...
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ژورنال
عنوان ژورنال: Sao Paulo Medical Journal
سال: 2014
ISSN: 1806-9460,1516-3180
DOI: 10.1590/1516-3180.2013.7930003