title: Yunis-Varón syndrome: the first report of two Iranian cases.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran.. f.ashuo@yahoo.com.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Hadipour
authors.affiliation: Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran. & Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.. f.ashuo@yahoo.com.
authors.forename: Yousef
authors.initials: Y
authors.lastname: Shafeghati
authors.affiliation: Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran.. f.ashuo@yahoo.com.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Hadipour
mesh_terms: D002973:Cleidocranial Dysplasia / Q000175:diagnosis* / Q000000981:diagnostic imaging; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007492:Iran; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008297:Male; D008844:Micrognathism / Q000175:diagnosis* / Q000000981:diagnostic imaging; D010375:Pedigree; D011859:Radiography