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.
Highlights
The Wolf–Hirschhorn syndrome (WHS) is a rare chromosomal disorder associated with a partial deletion of the short arm of Chromosome 4
A term female baby born to a 30 consangious married couple with birth weight of 2.6 kg was referred to our hospital in view of thick meconium stained amniotic fluid and dysmorphic facial features
Increased intraocular pressure in newborn stretches the sclera and cornea which explains the, megalocornea rather than a micro cornea usually seen in this syndrome
Summary
The Wolf–Hirschhorn syndrome (WHS) is a rare chromosomal disorder associated with a partial deletion of the short arm of Chromosome 4. WHS is a rare disorder which is misdiagnosed and is underestimated. It is rare in occurrence with frequency ranging from 1 per 20,000 to 1 per 50,000 births [3, 4]. Mouth, low set ears, micrognathia, delayed growth and delayed developmental milestones, intellectual disability and seizures. It is characterized by congenital hypotonia, low birth weight, dental problems including missing teeth, and cleft lip or cleft palate [5]. Associated heart defects includes Ventricular septal defects and left hypoplastic heart, Abnormalities of brain, genitourinary system, skeletal system can be associated features in this syndrome
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