Filippi syndrome: Report of three additional cases

Citation
Ms. Williams et al., Filippi syndrome: Report of three additional cases, AM J MED G, 87(2), 1999, pp. 128-133
Citations number
8
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
87
Issue
2
Year of publication
1999
Pages
128 - 133
Database
ISI
SICI code
0148-7299(19991119)87:2<128:FSROTA>2.0.ZU;2-I
Abstract
Filippi syndrome is an autosomal recessive condition characterized by varia ble 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 s yndrome. All have microcephaly, minor facial anomalies, variable syndactyly of digits, growth impairment, and developmental delay. One patient also ha s polydactyly, which has not been reported previously in the Filippi syndro me. (C) 1999 Wiley-Liss, Inc.