Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.
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.
van den Ende
J J
JJ
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
van Bever
Y
Y
Rodini
E S
ES
Richieri-Costa
A
A
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