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MASA syndrome: further clinical delineation and chromosomal localisation.
Hum Genet. 1989 Jul; 82(4):367-70.HG

Abstract

MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) is an X-linked disorder first described in 1974. Since that time, two further pedigrees have been reported with similar features. The main clinical features are summarised by the acronym. Kenwrick et al. reported a separate family with X-linked recessive spastic paraplegia and mental retardation and demonstrated close linkage to DXS15 and DXS52 (DX13 and St14) at Xq28. Four affected individuals in this family were said to have absence of the extensor pollicis longus. Here we report a family where two adult brothers and their nephew have the phenotype of MASA syndrome. We demonstrate by clinical and gene mapping studies that MASA syndrome is most likely the same condition as that described by Kenwrick et al., and we review its clinical course and presentation.

Authors+Show Affiliations

Kennedy Galton Centre, CRC, Northwick Park Hospital, Harrow, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2737668

Citation

Winter, R M., et al. "MASA Syndrome: Further Clinical Delineation and Chromosomal Localisation." Human Genetics, vol. 82, no. 4, 1989, pp. 367-70.
Winter RM, Davies KE, Bell MV, et al. MASA syndrome: further clinical delineation and chromosomal localisation. Hum Genet. 1989;82(4):367-70.
Winter, R. M., Davies, K. E., Bell, M. V., Huson, S. M., & Patterson, M. N. (1989). MASA syndrome: further clinical delineation and chromosomal localisation. Human Genetics, 82(4), 367-70.
Winter RM, et al. MASA Syndrome: Further Clinical Delineation and Chromosomal Localisation. Hum Genet. 1989;82(4):367-70. PubMed PMID: 2737668.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MASA syndrome: further clinical delineation and chromosomal localisation. AU - Winter,R M, AU - Davies,K E, AU - Bell,M V, AU - Huson,S M, AU - Patterson,M N, PY - 1989/7/1/pubmed PY - 1989/7/1/medline PY - 1989/7/1/entrez SP - 367 EP - 70 JF - Human genetics JO - Hum Genet VL - 82 IS - 4 N2 - MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) is an X-linked disorder first described in 1974. Since that time, two further pedigrees have been reported with similar features. The main clinical features are summarised by the acronym. Kenwrick et al. reported a separate family with X-linked recessive spastic paraplegia and mental retardation and demonstrated close linkage to DXS15 and DXS52 (DX13 and St14) at Xq28. Four affected individuals in this family were said to have absence of the extensor pollicis longus. Here we report a family where two adult brothers and their nephew have the phenotype of MASA syndrome. We demonstrate by clinical and gene mapping studies that MASA syndrome is most likely the same condition as that described by Kenwrick et al., and we review its clinical course and presentation. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/2737668/MASA_syndrome:_further_clinical_delineation_and_chromosomal_localisation_ DB - PRIME DP - Unbound Medicine ER -