Abstract
We present clinical features and genetic diagnosis in an Indian infant diagnosed with Johanson- Blizzard syndrome. This is a rare, autosomal recessive genetic condition with multi-system involvement and a characteristic facies. Molecular genetic testing is important to confirm the clinical diagnosis and offer prenatal diagnosis in future pregnancies.
MeSH terms
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Anus, Imperforate / diagnosis*
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Anus, Imperforate / genetics
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Ectodermal Dysplasia / diagnosis*
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Ectodermal Dysplasia / genetics
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Female
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Genetic Testing
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Growth Disorders / diagnosis*
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Growth Disorders / genetics
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Hearing Loss, Sensorineural / diagnosis*
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Hearing Loss, Sensorineural / genetics
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Humans
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Hypothyroidism / diagnosis*
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Hypothyroidism / genetics
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India
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Infant, Newborn
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Intellectual Disability / diagnosis*
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Intellectual Disability / genetics
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Nose / abnormalities*
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Pancreatic Diseases / diagnosis*
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Pancreatic Diseases / genetics
Supplementary concepts
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Johanson Blizzard syndrome