Other Names for this Disease
- Brachycephaly, deafness, cataract and mental retardation
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At first, all of the individuals who were reported with features suggestive of Fine–Lubinsky syndrome were the only affected individuals in their families. Although a variety of inheritance patterns could be proposed for this disorder, the identification of a brother and sister with unaffected parents suggests a possible autosomal recessive inheritance pattern with a 25% recurrence risk to future siblings. While autosomal dominant inheritance with germ-line mosaicism in a parent cannot be excluded in this case, it is recommended that parents of children with Fine–Lubinsky syndrome be aware of the recurrence risk associated with possible autosomal recessive inheritance.
Last updated: 6/14/2011