Year: 2020
Type: article
Study design: Case Report
Abstract: Case PresentationSix months old child brought to our attention for developmental delay.Child had both motor and intellectual developmental delay.Social smile attained at 3 months of life, recognized mother at 4 months of age.Neck holding was not achieved at that time (6 months).He was the first born, only son of two healthy cousins.Parents are Sunni and Pakistani.Family history was unremarkable for genetic disorders.Mother had fever in 8 months of gestation but no history of rash, burning micturition or any other complains.Child was delivered via Caesarean section due to non-progression of labour.Birth weight was 2.5kg and APGAR 8 at 1 minute and 9 at 5 minutes.Length at birth was 50cm (50 th centile) and FOC 33cm (10 th centile).Child had bilateral cataract at birth.Rubella serology of both mother and baby were negative.Cataract was operated at 4 months of age with minimal improvement in vision.The child used to wear spectacles and was unable to see without it.On examination at 6months his weight was 4kg, FOC was 37cm (below 2 nd centile) and length 64cm.He had poor postural control.Child had microcephaly, child was wearing spectacles and responded poorly without it, hearing was normal, microphthalmia, microcornea, bulbous nose, broad nasal bridge, prominent ears, thin lips, long philtrum, prominent chin, micro penis (1.5cm), bilateral retractile testis, two pits in sacral region, and delayed milestones.No organomegaly.In view of bilateral cataract and microcephaly, he had been evaluated for congenital
Author: Laraib Malik
Institution: Abbasi Shaheed Hospital
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W3140399990