Open AccessWolf-Hirschhorn syndrome presenting with cardiac manifestations at birth
Author(s) -
Sudhir Malwade,
Sharad Agarkhedkar,
Swapnil
Publication year - 2016
Publication title -
medical journal of dr. d y patil university/medical journal of dr. d.y. patil university
Language(s) - English
Resource type - Journals
eISSN - 2278-7119
pISSN - 0975-2870
DOI - 10.4103/0975-2870.186060
Subject(s) - microcephaly , comparative genomic hybridization , fluorescence in situ hybridization , prenatal diagnosis , chromosomal analysis , growth retardation , heart defect , facial dysmorphism , genetics , chromosome , biology , pediatrics , medicine , heart disease , karyotype , fetus , phenotype , pathology , pregnancy , gene
Wolf–Hirschhorn syndrome (WHS) is a condition of developmental delay and dysmorphology caused by a deletion of short arm of chromosome 4. The main characteristics of WHS are intra and extrauterine growth retardation, mental retardation with typical facial dysmorphism, microcephaly, and midline fusion defects. The diagnosis is based on clinical features and chromosomal analysis, e.g., microsatellite analysis or molecular cytogenetic techniques and fluorescence in situ hybridization (FISH) to detect the deletion. Prenatal diagnosis is possible by FISH. Though no specific treatment is available, supportive management can be fruitful. Here, we describe a female baby with a 4p deletion, who had the majority of the main phenotypic features of WHS and severe congenital heart disease manifesting at birth. The case emphasized that any fetus with intrauterine growth retardation, dysmorphic features on antenatal scan, and midline defects should raise a suspicion of WHS. Conventional cytogenetic studies can miss the diagnosis; hence, these cases should be further investigated using molecular cytogenetic techniques such as FISH or array-comparative genomic hybridization