Johanson-Blizzard syndrome
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was changed:
Johanson-Blizzard syndromeis a disorder of ectodermal dysplasia with a widewide variability in its manifestations. It is thought to have an autosomal recessive inheritance.
Clinical presentation
There is a wide variability in the clinical presentation, but common features are:
- low birth weight
- hypotonia
-
mental retardationintellectual disability (wide range) - delayed skeletal maturation, short stature
- facial features
- microcephaly
- aplastic alae nasi
- skin dimples and defects over the fontanelles
- severe oligodontia
- sensorineural deafness
- exocrine pancreatic insufficiency
- rectourogenital anomalies
- hypothyroidism
Radiologic features
- pancreatic lipomatosis
- hydronephrosis
- delayed skeletal maturation
- cystic dilatation of the cochlea and vestibule
-<p><strong>Johanson-Blizzard syndrome </strong>is a disorder of ectodermal dysplasia with a wide variability in its manifestations. It is thought to have autosomal recessive inheritance.</p><h4>Clinical presentation</h4><p>There is a wide variability in the clinical presentation, but common features are:</p><ul>- +<p><strong>Johanson-Blizzard syndrome </strong>is a disorder of ectodermal dysplasia with wide variability in its manifestations. It is thought to have an autosomal recessive inheritance.</p><h4>Clinical presentation</h4><p>There is wide variability in the clinical presentation, but common features are:</p><ul>
-<li>mental retardation (wide range)</li>- +<li>intellectual disability (wide range)</li>
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