WOLF-HIRSCHHORN SYNDROME: REPORT OF TWO CASES IN BOSNIA AND HERZEGOVINA
Helji* S1,*, Hadzagic-Catibušic F1, Maksic H1, Terzic S1, Djozic M1, Mackic M2, Catovic A2
*Corresponding Author: *Corresponding Author: Dr. Suada Heljic, Pediatric Clinic, Clinical University Center Sarajevo, Bolnica 25, 71 000 Sarajevo, Bosnia and Herzegovina; Tel./Fax: +387-332-58481; E-mail: heljicsuada@hotmail.com
page: 77

INTRODUCTION

 

 Wolf-Hirschhorn syndrome (WHS; syndrome of dele tion of distal short arm of chromosome 4) is a rare devel opmental disorder, first described by Cooper and Hirsch horn [1] and Wolf et al. [2]. After the first clinical descrip tion, several reports were published [3-5], but the exact incidence of the syndrome is not yet known. Shanon et al. [5] published an epidemiological study of 159 cases, esti mating that the minimal incidence is 1:95896. The syn drome is characterized by developmental delay, cranio facial dysmorphism and closure defects (cleft lip or palate, heart septal defects). The common phenotype abnormal ities are: microcephaly, frontal bossing, high frontal hair line, prominent glabella, hypertelorismus, ptosis, iris colo boma, wide nasal bridge, down slanting palpebral fissures, strabismus, exotropia, carplike mouth, large misshapen ears, skeleton anomalies, hypospadia and kryptorchismus. Dysmorphic features (collectively described as Greek warrior helmet facies) is frequently associated by hypo tonia, seizures and reliable insensitiveness to pain [6,7]. Association with malignancy is also described [8].



Wolf-Hirschhorn syndrome is caused by a structural aberration of chromosome 4, with deletion of 20 to 80% of its short arm.The severity of the clinical manifestations depends on the size of the deletion. Deficiency of chromo some 4 can originate from a de novo interstitial deletion (in 90% of patients) or derivate from parental mosaicism or unbalanced reciprocal translocation. Deletion of the terminal band (4p16.3) is essential for full expression of the phenotype [9]. Life expectancy has not been well documented, but one-third of patients die in the first year of life due to pneumonia or congestive heart faillure. Only a few patients survive into the first decade of life.




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