van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures.
Here, we report on a Venezuelan child with manifestations of van den Ende-Gupta syndrome, including blepharophimosis, arachnodactyly, and congenital contractures. We also review cases from the literature.
Guerra
Dania
D
Unidad de Genética Medica, Escuela de Ciencias de la Salud, Núcleo Bolívar, Universidad de Oriente, Ciudad Bolívar, Estado Bolívar, Venezuela. guerradania@hotmail.com
Sanchez
Otto
O
Richieri-Costa
Antonio
A
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D016569:Blepharophimosis / Q000473:pathology*; D002648:Child; D003286:Contracture / Q000151:congenital / Q000473:pathology*; D005532:Foot Deformities, Congenital / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000473:pathology*; D013577:Syndrome