Filippi syndrome: Report of three additional cases

American Journal of Medical Genetics

Volumn 87, Issue 2, 1999, Pages 128-133

  Williams, Marc S ^a,d   Williams, Janet L ^a   Wargowski, David S ^b   Pauli, Richard M ^b   Pletcher, Beth A ^c  

^a GUNDERSEN LUTHERAN MEDICAL CENTER   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^d NONE   (United States)

Author keywords

Growth failure; MCA MR syndrome; Microcephaly; Syndactyly

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; FEMALE; FILIPPI SYNDROME; GROWTH DISORDER; HUMAN; MALE; MICROCEPHALY; PRIORITY JOURNAL; SYNDACTYLY; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; GENES, RECESSIVE; GROWTH DISORDERS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MICROCEPHALY; POLYDACTYLY; SYNDACTYLY; SYNDROME;

EID: 0032707124     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991119)87:2<128::AID-AJMG3>3.0.CO;2-T     Document Type: Article

References (8)

1. Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M. 1996. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet 5:945-952.
2. Filippi G. 1985. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly: a new syndrome? Am J Med Genet 22:821-824.
3. Fryer A. 1996. Filippi syndrome with mild learning difficulties. Clin Dysmorph 5:35-39.
4. Héron D, Billette de Villimeur T, Munnich A, Lyonnet S. 1995. Filippi syndrome: a new case with skeletal abnormalities. J Med Genet 32: 659-661.
5. Meinecke P. 1993. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome: report on a second family. Genet Couns 4:147-151.
6. Online Mendelian Inheritance in Man, OMIM (TM). 1996. Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD).
7. Sayli BS, Akarsu AN, Sayli U, Akhan O, Ceylaner S, Sarfarazi M. 1995. A large Turkish kindred with syndactyly type II (synpolydactyly): 1. Field investigation, clinical and pedigree data. J Med Genet 32:421-434.
8. Toriello HV, Higgins JV. 1995. Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis. Am J Med Genet 55:200-204.