An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?
We report on a boy with severe growth and mental retardation, syndactyly of toes and facial anomalies. This phenotype can easily be classified in the group of craniodigital syndromes, but it is difficult to make a more clearly defined diagnosis, based on other minor anomalies, because of the presence of overlapping features. On the basis of various pathognomic features, we conclude that our patient could be an additional case of Filippi syndrome. Moreover, newly recognised features in this patient may be due to variability in phenotypic expression.
Orrico
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Dipartimento di Biologia Molecolare, U.O. Genetica Medica, Policlinico Le Scotte, Siena, Italy.
Hayek
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D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000473:pathology; D013576:Syndactyly / Q000473:pathology; D013577:Syndrome; D014034:Toes / Q000002:abnormalities