Vol. 5, Issue 3, Part A (2019)

Peters’ Plus Syndrome is an autosomal recessive disorder characterized by Peters’ anomaly, cataract, short stature, dysmorphic facial features developmental delay and intellectual disability. Ring Chromosome 21 is a rare chromosomal disorder in which the affected infant has breakage of chromosome 21 at both ends and ends of chromosome join together to form a ring which manifests as mental retardation, abnormalities of face, eyes and/or internal organs.

A 4year old male child was brought with complaints of inability to see, 3 episodes of seizures and dysmorphic features. Patient also had history of delayed milestones. On Examination all vital parameters were normal. Dysmorphic features included broad nose, low set ears, retrognathia, cupid shaped upper lip. On auscultation there was a systolic murmur. Height less than -2 SD. Ophthalmic examination showed bilateral corneal opacity. MRI Brain showed periventricular leukomalacia and thinning of corpus callosum. 2D ECHO showed 4mm atrial septal defect. BERA suggestive of bilateral mild hearing loss. EEG was normal. Cytogenetic studies showed a ring chromosome 21 and loss of one chromosome 21. I could not carry out the study for B3GALTL mutation which is associated with the syndrome. Thus the diagnosis of Peters’ Plus syndrome like phenotype with ring chromosome 21 was considered.