Expanding the phenotype of Filippi syndrome: a report of three cases.
This report is of two brothers and a male singleton with clinical characteristics of Filippi syndrome, born to young, healthy, non-consanguineous parents. Their features, which include borderline to milder developmental delay, particularly of speech and language, primary microdontia and previously unreported radiological findings are described to further delineate and expand the clinical spectrum of the condition.
Walpole
I R
IR
Genetic Services of Western Australia, King Edward Memorial Hospital for Women, Department of Paediatrics, University of Western Australia, Subiaco. Ian.Walpole@health.wa.gov.au
Parry
T
T
Goldblatt
J
J
D000015:Abnormalities, Multiple; D002658:Developmental Disabilities; D019066:Facies; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome