HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis.

Abstract
We describe a boy with low birth weight, congenital microcephaly, multiple minor facial anomalies, cleft palate, soft tissue syndactyly of fingers and toes, and moderate to severe mental retardation. Literature review suggested 6 possible diagnoses, including Scott craniodigital syndrome, Chitayat syndrome, Filippi syndrome, Zerres syndrome, Kelly syndrome, and Woods syndrome. Each has as part of the phenotype craniofacial anomalies and soft tissue syndactyly of fingers and toes; and superficially, distinction among the 6 may be difficult. However, based on the phenotype analysis we performed, we conclude that our patient has Filippi syndrome, and thus is the first reported case from the United States.
AuthorsH V Toriello, J V Higgins
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 55 Issue 2 Pg. 200-4 (Jan 16 1995) ISSN: 0148-7299 [Print] United States
PMID7717418 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple (diagnosis, genetics)
  • Cleft Palate (genetics)
  • Diagnosis, Differential
  • Face (abnormalities)
  • Humans
  • Infant, Newborn
  • Intellectual Disability (genetics)
  • Male
  • Microcephaly (genetics)
  • Phenotype
  • Syndactyly (genetics)
  • Syndrome

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: