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Filippi syndrome: report of three additional cases.
Am J Med Genet. 1999 Nov 19; 87(2):128-33.AJ

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.

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Authors+Show Affiliations

Williams MS
Gundersen Lutheran Medical Center, La Crosse, Wisconsin, USA. mwilliam@gundluth.org
Williams JL
No affiliation info available
Wargowski DS
No affiliation info available
Pauli RM
No affiliation info available
Pletcher BA
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentChildChild, PreschoolFemaleGenes, RecessiveGrowth DisordersHumansInfantInfant, NewbornIntellectual DisabilityMaleMicrocephalyPolydactylySyndactylySyndrome

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

10533026

Citation

Williams, M S., et al. "Filippi Syndrome: Report of Three Additional Cases." American Journal of Medical Genetics, vol. 87, no. 2, 1999, pp. 128-33.
Williams MS, Williams JL, Wargowski DS, et al. Filippi syndrome: report of three additional cases. Am J Med Genet. 1999;87(2):128-33.
Williams, M. S., Williams, J. L., Wargowski, D. S., Pauli, R. M., & Pletcher, B. A. (1999). Filippi syndrome: report of three additional cases. American Journal of Medical Genetics, 87(2), 128-33.
Williams MS, et al. Filippi Syndrome: Report of Three Additional Cases. Am J Med Genet. 1999 Nov 19;87(2):128-33. PubMed PMID: 10533026.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Filippi syndrome: report of three additional cases. AU - Williams,M S, AU - Williams,J L, AU - Wargowski,D S, AU - Pauli,R M, AU - Pletcher,B A, PY - 1999/10/26/pubmed PY - 1999/10/26/medline PY - 1999/10/26/entrez SP - 128 EP - 33 JF - American journal of medical genetics JO - Am J Med Genet VL - 87 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/10533026/Filippi_syndrome:_report_of_three_additional_cases_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1999&volume=87&issue=2&spage=128 DB - PRIME DP - Unbound Medicine ER -