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Acta Medica Iranica، جلد ۵۲، شماره ۱، صفحات ۸۵-۸۷
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عنوان انگلیسی Yunis-Varón syndrome: the first report of two Iranian cases.
چکیده انگلیسی مقاله The Yunis-Varón syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles (cleidocranial dysplasia), absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, growth retardation and poor outcome. The molecular genetic basis is unknown. Here, we report an 8 months old girl with Yunis-Varón syndrome, born to a consanguineously married, with normal parents. She had micrognathia, wide fontanels, prominent eyes, poor sucking, congenital heart diseases, asymmetric face, ambiguous genitalia, reduction anomaly in right hand including thumb, and hypoplastic distal phalanges of 3th fingers, and hypo plastic clavicles. She has glaucoma and lenses opacity. There is another similar case in her family. Karyotype is normal. She is the first Iranian known case of Yunis-Varón syndrome.
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نویسندگان مقاله | Zahra Hadipour
Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran.


| Yousef Shafeghati
Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran. AND Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.


| Fatemeh Hadipour
Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran.
نشانی اینترنتی http://acta.tums.ac.ir/index.php/acta/article/view/4723
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