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Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature.
Genet Couns. 2002; 13(3):343-52.GC

Abstract

Filippi syndrome is a specific Multiple Congenital Abnormalities/Mental Retardation (MCA/MR) complex which must not be confused with other so called "craniodigital syndromes", a heterogeneous group of pathological conditions simply lumped for the combination of different cranial and digital anomalies. We report on a new patient with the characteristic features of Filippi syndrome, comparing him with other reported cases and underlining the peculiar and specific shape of the nasal bridge. The metacarpophalangeal profile in our patient is also quite unusual and could be, if confirmed, a good marker of this syndrome.

Authors+Show Affiliations

Franceschini P
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Università degli Studi di Torino, Italy. francesc@pediatria.unito.it
Licata D
No affiliation info available
Guala A
No affiliation info available
Di Cara G
No affiliation info available
Franceschini D
No affiliation info available

MeSH

Abnormalities, MultipleChildDiagnosis, DifferentialFemaleFingersGenes, RecessiveGenetic MarkersHumansIntellectual DisabilityMicrocephalySkullSyndrome

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

12416644

Citation

Franceschini, P, et al. "Filippi Syndrome: a Specific MCA/MR Complex Within the Spectrum of so Called "craniodigital Syndromes". Report of an Additional Patient With a Peculiar Mpp and Review of the Literature." Genetic Counseling (Geneva, Switzerland), vol. 13, no. 3, 2002, pp. 343-52.
Franceschini P, Licata D, Guala A, et al. Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature. Genet Couns. 2002;13(3):343-52.
Franceschini, P., Licata, D., Guala, A., Di Cara, G., & Franceschini, D. (2002). Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature. Genetic Counseling (Geneva, Switzerland), 13(3), 343-52.
Franceschini P, et al. Filippi Syndrome: a Specific MCA/MR Complex Within the Spectrum of so Called "craniodigital Syndromes". Report of an Additional Patient With a Peculiar Mpp and Review of the Literature. Genet Couns. 2002;13(3):343-52. PubMed PMID: 12416644.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature. AU - Franceschini,P, AU - Licata,D, AU - Guala,A, AU - Di Cara,G, AU - Franceschini,D, PY - 2002/11/6/pubmed PY - 2003/2/14/medline PY - 2002/11/6/entrez SP - 343 EP - 52 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 13 IS - 3 N2 - Filippi syndrome is a specific Multiple Congenital Abnormalities/Mental Retardation (MCA/MR) complex which must not be confused with other so called "craniodigital syndromes", a heterogeneous group of pathological conditions simply lumped for the combination of different cranial and digital anomalies. We report on a new patient with the characteristic features of Filippi syndrome, comparing him with other reported cases and underlining the peculiar and specific shape of the nasal bridge. The metacarpophalangeal profile in our patient is also quite unusual and could be, if confirmed, a good marker of this syndrome. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/12416644/Filippi_syndrome:_a_specific_MCA/MR_complex_within_the_spectrum_of_so_called_"craniodigital_syndromes"__Report_of_an_additional_patient_with_a_peculiar_mpp_and_review_of_the_literature_ DB - PRIME DP - Unbound Medicine ER -