<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Wolf-Hirschhorn syndrome (WHS) is a rare developmental disorder caused by a partial deletion of the short arm of chromosome 4 (4p-). The main phenotypic characteristics of WHS are: intrauterine growth retardation, mental retardation, typical facial dysmorphism, microcephaly and midline fusion defects (cleft lip or palate, cardiac septal defects). Other abnormalities, such as agenesis of the corpus callosum, dysplastic kidneys, iris coloboma and skeletal abnormalities have occasionally been described.</p><p>We describe two female newborn babies with a 4p deletion, who have a majority of the main phenotypic features of WHS. Prenatal diagnosis of the syndrome is very important, because dysmorphologic features are associated with profound mental retardation. Postnatal recognition of the syndrome requires genetic counseling of the parents and supportive multidisciplinary treatment.</p></abstract>

Wolf-Hirschhorn syndrome (WHS) is a rare developmental disorder caused by a partial deletion of the short arm of chromosome 4 (4p-). The main phenotypic characteristics of WHS are: intrauterine growth retardation, mental retardation, typical facial dysmorphism, microcephaly and midline fusion defects (cleft lip or palate, cardiac septal defects). Other abnormalities, such as agenesis of the corpus callosum, dysplastic kidneys, iris coloboma and skeletal abnormalities have occasionally been described.We describe two female newborn babies with a 4p deletion, who have a majority of the main phenotypic features of WHS. Prenatal diagnosis of the syndrome is very important, because dysmorphologic features are associated with profound mental retardation. Postnatal recognition of the syndrome requires genetic counseling of the parents and supportive multidisciplinary treatment.

Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and Herzegovina

Pediatric Clinic of Clinical University Center Sarajevo, 71 000 Sarajevo, Bosnia and Herzegovina

Institut for Human Genetics Sarajevo, Medical Faculty, University of Sarajevo, 71 000 Sarajevo, Bosnia and Herzegovina

Balkan Journal of Medical Genetics

{"article-title":"Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and Herzegovina"}

Wolf-Hirschhorn syndrome (WHS) is a rare developmental disorder caused by a partial deletion of the short arm of chromosome 4 (4p-). The main phenotypic...

Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and Herzegovina

Publié en ligne: 30 mai 2008

Pages: 77 - 80

DOI: https://doi.org/10.2478/v10034-008-0010-4

Mots clés
Wolf-Hirschhorn syndrome (WHS), Chromosome 4, Deletion

This content is open access.

Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and Herzegovina

Publié en ligne: 30 mai 2008

Pages: 77 - 80

DOI: https://doi.org/10.2478/v10034-008-0010-4

Mots clésWolf-Hirschhorn syndrome (WHS), Chromosome 4, Deletion

This content is open access.

Mots clés
Wolf-Hirschhorn syndrome (WHS), Chromosome 4, Deletion