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Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.
Am J Med Genet. 1992 Feb 15; 42(4):467-9.AJ

Abstract

We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed "new" autosomal recessive syndrome.

Authors+Show Affiliations

Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1609830

Citation

van den Ende, J J., et al. "Marden-Walker-like Syndrome Without Psychomotor Retardation: Report of a Brazilian Girl Born to Consanguineous Parents." American Journal of Medical Genetics, vol. 42, no. 4, 1992, pp. 467-9.
van den Ende JJ, van Bever Y, Rodini ES, et al. Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. Am J Med Genet. 1992;42(4):467-9.
van den Ende, J. J., van Bever, Y., Rodini, E. S., & Richieri-Costa, A. (1992). Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. American Journal of Medical Genetics, 42(4), 467-9.
van den Ende JJ, et al. Marden-Walker-like Syndrome Without Psychomotor Retardation: Report of a Brazilian Girl Born to Consanguineous Parents. Am J Med Genet. 1992 Feb 15;42(4):467-9. PubMed PMID: 1609830.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. AU - van den Ende,J J, AU - van Bever,Y, AU - Rodini,E S, AU - Richieri-Costa,A, PY - 1992/2/15/pubmed PY - 1992/2/15/medline PY - 1992/2/15/entrez SP - 467 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 42 IS - 4 N2 - We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed "new" autosomal recessive syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1609830/Marden_Walker_like_syndrome_without_psychomotor_retardation:_report_of_a_Brazilian_girl_born_to_consanguineous_parents_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1992&volume=42&issue=4&spage=467 DB - PRIME DP - Unbound Medicine ER -