Filippi syndrome: report of three additional cases.

Abstract

Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation. We report on three unrelated individuals with Filippi syndrome. All have microcephaly, minor facial anomalies, variable syndactyly of digits, growth impairment, and developmental delay. One patient also has polydactyly, which has not been reported previously in the Filippi syndrome.

• Authors: M S Williams, J L Williams, D S Wargowski, R M Pauli, B A Pletcher
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 87 Issue 2 Pg. 128-33 (Nov 19 1999) ISSN: 0148-7299 [Print] United States
• PMID: 10533026 (Publication Type: Journal Article, Review)
• Copyright: Copyright 1999 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics)
• Adolescent
• Child
• Child, Preschool
• Female
• Genes, Recessive (genetics)
• Growth Disorders (genetics)
• Humans
• Infant
• Infant, Newborn
• Intellectual Disability (genetics)
• Male
• Microcephaly (genetics)
• Polydactyly (genetics)
• Syndactyly (genetics)
• Syndrome