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Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis.
Am J Med Genet. 1995 Jan 16; 55(2):200-4.AJ

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.

Authors+Show Affiliations

Genetics Services, Butterworth Hospital, Grand Rapids, Michigan, USA.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7717418

Citation

Toriello, H V., and J V. Higgins. "Craniodigital Syndromes: Report of a Child With Filippi Syndrome and Discussion of Differential Diagnosis." American Journal of Medical Genetics, vol. 55, no. 2, 1995, pp. 200-4.
Toriello HV, Higgins JV. Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis. Am J Med Genet. 1995;55(2):200-4.
Toriello, H. V., & Higgins, J. V. (1995). Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis. American Journal of Medical Genetics, 55(2), 200-4.
Toriello HV, Higgins JV. Craniodigital Syndromes: Report of a Child With Filippi Syndrome and Discussion of Differential Diagnosis. Am J Med Genet. 1995 Jan 16;55(2):200-4. PubMed PMID: 7717418.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis. AU - Toriello,H V, AU - Higgins,J V, PY - 1995/1/16/pubmed PY - 1995/1/16/medline PY - 1995/1/16/entrez SP - 200 EP - 4 JF - American journal of medical genetics JO - Am J Med Genet VL - 55 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7717418/Craniodigital_syndromes:_report_of_a_child_with_Filippi_syndrome_and_discussion_of_differential_diagnosis_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=55&issue=2&spage=200 DB - PRIME DP - Unbound Medicine ER -