SEVENTH CASE OF THE PROGEROID SYNDROME WITH EHLERS-DANLOS FEATURES
A. HERNANDEZ *
Subjefatura de Investigacion, Unidad de Investigacion Biomedica, Division de Genetica y Hospital de Especialidades, Centro Medico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalalara Jalisco Mexico
M. C. REYNOSO *
Subjefatura de Investigacion, Unidad de Investigacion Biomedica, Division de Genetica y Hospital de Especialidades, Centro Medico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalalara Jalisco Mexico
A. SARRALDE *
Subjefatura de Investigacion, Unidad de Investigacion Biomedica, Division de Genetica y Hospital de Especialidades, Centro Medico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalalara Jalisco Mexico
Z. NAZARA *
Subjefatura de Investigacion, Unidad de Investigacion Biomedica, Division de Genetica y Hospital de Especialidades, Centro Medico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalalara Jalisco Mexico
L. LIZCANO *
Subjefatura de Investigacion, Unidad de Investigacion Biomedica, Division de Genetica y Hospital de Especialidades, Centro Medico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalalara Jalisco Mexico
J. SANCHEZ-CORONA *
Subjefatura de Investigacion, Unidad de Investigacion Biomedica, Division de Genetica y Hospital de Especialidades, Centro Medico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalalara Jalisco Mexico
*Author to whom correspondence should be addressed.
Abstract
We describe a patient with, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, periodontitis and multiple caries, pectus excavatum cryptorchidism, inguinal hernia, joint and skin hyperetensibility, papiraceous scars multiple nevi, varicose veins and mucopolysacchariduria.
It is concluded that this patient is a new reported case (seventh case) of the Progeroid Syndrome with Ehlers-Danlos, features. Biochemical studies suggest an abnormality in glycosaminoglycan biosynthesis in at least one of the previously reported patients.
Keywords: Autosomal dominant, connective tissue defect, Ehlers-Danlos, features, mucopolysacchariduria, syndrome