Dr. Vivek Jain (Homeopathy) needs a second opinion on this medical case.
Guess the diagnosis of this Rare Case Doctors
A 28-day-old male child was brought to the ophthalmology outpatient department with a complaint of redness in both eyes for the past 10 days. It was not associated with any discharge from either of the eyes.
The patient was the first child of a 22-year-old woman who delivered at the same hospital at term. There was a history of delayed crying at birth.
He was born of a nonconsanguinous marriage and the pedigree analysis revealed no other affected member in the family.
The developmental milestones were age appropriate except for hearing deficit as he did not turn his head to sound. He was breast feeding with no difficulty in swallowing.
The child was 37 cm long with a body weight of 3 kg. The skull was normal except for an open anterior fontanelle. The facial characteristics were bilaterally symmetrical but abnormal.
There were multiple facial dysmorphic features including downward-slanting eyes, malar hypoplasia, mandibular hypoplasia (micrognathia), a large fishlike mouth (macrostomia) with a high arched palate .
The tongue was retropositioned but the child had no difficulty in feeding and swallowing. The child had malformed and crumpled bilateral pinnae. The right ear had external auditory canal stenosis and left ear had external auditory canal atresia.
He also had pectus carinatum and chest indrawing. Auscultation revealed vesicular breath sounds with prolonged expiration. The abdomen was scaphoid, and there was no other abnormality in the limbs, back, and genitals.
The ophthalmological examination revealed antimongoloid slant of the palpebral fissures. The child had bilateral lower lid coloboma (lateral one third) with absence of eyelashes in the entire extent of the lower lids .
The inferior conjunctiva was congested in both eyes with superficial haze of the inferior cornea (exposure keratopathy)