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.
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.
Franceschini
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Dipartimento di Scienze Pediatriche e dell'Adolescenza, Università degli Studi di Torino, Italy. francesc@pediatria.unito.it
Licata
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Guala
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Di Cara
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Franceschini
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D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
D005819:Genetic Markers