Wolf–Hirschhorn syndrome
Journal Title: Pediatric Review: International Journal of Pediatric Research - Year 2016, Vol 3, Issue 7
Abstract
The Wolf–Hirschhorn syndrome (WHS) is a rare chromosomal disorder associated with a partial deletion of the short arm of chromosome 4. The major features of this disorder include a characteristic facial appearance such as a high forehead, highly arched eyebrows, epicanthal folds,coloboma iris and retina, short philtrum, fish-like mouth, low set ears, micrognathia, delayed growth and delayed developmental milestones, intellectual disability and seizures. We are hereby reporting a case which showed typical phenotypic facial features at birth with cloudy cornea.
Authors and Affiliations
Rugmini Kamalammal, Shivaprakash N C, Naveen K S
Keywords
Related Articles
- EP ID EP225884
- DOI 10.17511
- Views 131
- Downloads 0
Can thyroid dysfunction in mothers influence neonatal thyroid profile?
Thyroid hormones play a critical role in normal CNS maturation. Fetus is entirely dependent on maternal thyroid hormone before the onset of endogenous thyroid hormone production. Maternal hypothyroidism alone during earl...
Prevalence of hypoxemia & its determinates in children with Acute Lower Respiratory infection
Introduction: Acute lower respiratory tract infections (LRTIs), most commonly pneumonia, are one of the major reasons for which children are brought to the hospitals. Effective reduction of mortality due to pneumonia is...
Association between iron deficiency anemia and febrile seizures
Background: Febrile seizure is a common cause of seizure in young children, with an excellent prognosis. There is high prevalence of febrile seizure and iron deficiency anemia in preschool children, the aim of this study...
Prospective clinical study of the skin markers in childhood obesity-an emerging pandemic
Introduction: Obesity poses an alarming threat to the children in recent days due to poor lifestyle and improper dietary habits. These children are at higher risk of developing Coronary artery diseases, Hypertension, Dia...
A comparative study of 25 hydroxy vitamin D levels in patients of thalassemia and healthy children
Introduction: Vitamin D deficiency is emerging threat to patients with thalassemia. Adequate circulating levels of vitamin D are essential for optimal skeletal health and reducing fracture risk. The aim of this study was...