Filippi syndrome: report of three additional cases
M S Williams1, J L Williams, D S Wargowski
1Gundersen Lutheran Medical Center, La Crosse, Wisconsin, USA. mwilliam@gundluth.org
Filippi syndrome, a rare genetic disorder, involves syndactyly and microcephaly. This study describes three new cases, including one with previously unreported polydactyly, expanding the known features of this condition.
Area of Science:
- Genetics
- Rare Diseases
- Developmental Biology
Background:
- Filippi syndrome is an autosomal recessive disorder.
- Key features include syndactyly, microcephaly, growth retardation, and intellectual disability.
Purpose of the Study:
- To report on three new, unrelated cases of Filippi syndrome.
- To document clinical variability and identify potential new features of the syndrome.
Main Methods:
- Clinical case reporting.
- Phenotypic analysis of affected individuals.
Main Results:
- All three patients presented with microcephaly, minor facial anomalies, syndactyly, growth impairment, and developmental delay.
- One patient exhibited polydactyly, a feature not previously described in Filippi syndrome.
Conclusions:
- The findings expand the phenotypic spectrum of Filippi syndrome.
- Polydactyly should be considered in the clinical evaluation of individuals with Filippi syndrome.
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