A review on yunis-varon syndrome

نویسندگان

چکیده

Yunis Varon Syndrome was first discovered by Emilio and Humberto in the year 1980. It affects both genders equal number. Most of infants are with Cleidocranial dysplasia, ectodermal anomalities, distal aphalangia. By characteristic features which including deformity pelvis, dislocation hips , bone fracture, urinary tract abnormalities, central nervous system abnormalities this they have reported condition as Syndrome.
 This is an autosomal recessive inherited multisystem disorder due to FIG4 gene mutations, consanguineous marriages, Lysosomal defects, may leads improper functioning organs infants. Metabolic disorders abnormal growth some toxic substances body. Affected people syndrome experience breathing problems, skeletal system, congenital heart defects.
 Genetic testing for mutation can be detected through diagnosis. In conditions also before birth baby that prenatally ultrasonography.Many did not survive beyond on year. counselling will benefit affected individuals their families.

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ژورنال

عنوان ژورنال: World Journal of Current Medical and Pharmaceutical Research

سال: 2023

ISSN: ['2582-0222']

DOI: https://doi.org/10.37022/wjcmpr.v5i1.251