Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.
Two brothers with a combination of atypical syndactylies, cerebellar atrophy and severe mental retardation are described. These cases share important features with the group of craniodigital syndromes and could represent new occurrences of Filippi syndrome. Cerebellar atrophy may represent a yet unreported finding in this syndrome.
Schorderet
D F
DF
Division of Medical Genetics, CHUV, Lausanne, Switzerland.
Addor
M C
MC
Maeder
Ph
P
Roulet
E
E
Junier
L
L
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002531:Cerebellum / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D013576:Syndactyly / Q000235:genetics / Q000473:pathology*; D013577:Syndrome