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Nager syndrome
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Milder type Most cases are sporadic but there are well documented cases of parent to child transmission indicating autosomal dominant inheritance. There may be autosomal recessive types as well.
Severe types Most of these are likely to be autosomal recessive since affected siblings and cousin parents have been described.
Prenatal diagnosis
This is possible for these severe types by detailed ultrasound scanning from sixteen weeks of pregnancy. Genetic counselling is recommended to identify the type of Nager syndrome and the recurrence risks in individual families.
What are the symptoms?
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