Yunis-Varón Syndrome: The First Report of Two Iranian Cases

  • 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 Mail Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran.
Keywords:
Congenital heart diseases, Hypoplastic thumb, phalanges and clavicles, Yunis-Varón syndrome

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.

References

Yunis E, Varon H. Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangea: A new genetic syndrome. Am J Dis Child 1980;134(7):649-53.

Huges HE, Partington MW. Brief clinical report: the syndrome of Yunis and Varon - report of a further case. Am J Med Genet 1983;14(3):539-44.

Ades LC, Morris LL, Richardson M, Pearson C, Haan EA. Congenital heart malformation in Yunis- Varon syndrome. J Med Genet 1993;30(9):788-92.

Partington M.W. Cardiomyopathy added to the Yunis- Varon syndrome. Proc. Greenwood Genetic Center. 1988;7:224–225.

Garrett C, Berry AC, Simpson RH, Hall CM. Yunis-Var6n syndrome with severe osteodysplasty. J Med Genet 1990;27(2):114-21.

Christie J, Sacks S, Decoratto D, Bergasa NV. Atrophy of the left lobe of the liver and anomalos hepatic vessel in a patient with yunis-vaton syndrome.j Clin Gastroenterol 1999;29(2):210-11.

How to Cite
1.
Hadipour Z, Shafeghati Y, Hadipour F. Yunis-Varón Syndrome: The First Report of Two Iranian Cases. Acta Med Iran. 52(1):85-87.
QRcode
Section
Articles