Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation. Genetic counseling (Geneva, Switzerland) [Genet Couns] Journal article | | Title | Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation. | | Author(s) | Schorderet DF, Addor MC, Maeder P, Roulet E, Junier L | | Institution | Division of Medical Genetics, CHUV, Lausanne, Switzerland. | | Source | Genet Couns 2002; 13(4):441-7. | | MeSH | Abnormalities, Multiple
Adult
Cerebellum
Female
Humans
Infant, Newborn
Karyotyping
Magnetic Resonance Imaging
Male
Mental Retardation
Syndactyly
Syndrome
| | Abstract | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 12558115 |
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