title: Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.
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.affiliation: Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
authors.forename: J J
authors.initials: JJ
authors.lastname: van den Ende
authors.forename: Y
authors.initials: Y
authors.lastname: van Bever
authors.forename: E S
authors.initials: ES
authors.lastname: Rodini
authors.forename: A
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D016569:Blepharophimosis; D002648:Child; D002972:Cleft Palate; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008382:Marfan Syndrome; D011596:Psychomotor Disorders; D013577:Syndrome