Tags

Type your tag names separated by a space and hit enter

Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy.
Genet Couns. 1993; 4(4):295-8.GC

Abstract

We report on a patient affected by congenital muscular dystrophy, severe psychomotor retardation, severe hypotonia, papillar hypoplasia and peculiar NMR pattern of hydrocephalus, Dandy-Walker malformation and leukodystrophy. These findings are intermediate between Walker-Walburg syndrome, Fukuyama disease and Occidental congenital muscular dystrophy. Our case focuses on the wide spectrum of congenital muscle dystrophy associated with central nervous system disease and on the difficulties of genetic counseling in these families.

Authors+Show Affiliations

2nd Pediatric Service, G. Gaslini Institute, Genoa, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8110418

Citation

Di Rocco, M, et al. "Report On a Patient With Congenital Muscular Dystrophy, Hydrocephalus, Dandy-Walker Malformation and Leukodystrophy." Genetic Counseling (Geneva, Switzerland), vol. 4, no. 4, 1993, pp. 295-8.
Di Rocco M, Leveratto L, Cama A, et al. Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy. Genet Couns. 1993;4(4):295-8.
Di Rocco, M., Leveratto, L., Cama, A., Bado, M., Tortori Donati, P., Andreussi, L., & Borrone, C. (1993). Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy. Genetic Counseling (Geneva, Switzerland), 4(4), 295-8.
Di Rocco M, et al. Report On a Patient With Congenital Muscular Dystrophy, Hydrocephalus, Dandy-Walker Malformation and Leukodystrophy. Genet Couns. 1993;4(4):295-8. PubMed PMID: 8110418.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy. AU - Di Rocco,M, AU - Leveratto,L, AU - Cama,A, AU - Bado,M, AU - Tortori Donati,P, AU - Andreussi,L, AU - Borrone,C, PY - 1993/1/1/pubmed PY - 1993/1/1/medline PY - 1993/1/1/entrez SP - 295 EP - 8 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 4 IS - 4 N2 - We report on a patient affected by congenital muscular dystrophy, severe psychomotor retardation, severe hypotonia, papillar hypoplasia and peculiar NMR pattern of hydrocephalus, Dandy-Walker malformation and leukodystrophy. These findings are intermediate between Walker-Walburg syndrome, Fukuyama disease and Occidental congenital muscular dystrophy. Our case focuses on the wide spectrum of congenital muscle dystrophy associated with central nervous system disease and on the difficulties of genetic counseling in these families. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/8110418/Report_on_a_patient_with_congenital_muscular_dystrophy_hydrocephalus_Dandy_Walker_malformation_and_leukodystrophy_ L2 - http://www.diseaseinfosearch.org/result/3510 DB - PRIME DP - Unbound Medicine ER -