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Yunis Varon syndrome.

M L Kulkarni1, H N Vani, K Nagendra

  • 1Department of pediatrics, JJM Medical College, Davangere, Karnataka State, India.

Indian Journal of Pediatrics
|July 4, 2006
PubMed
Summary

This report details a neonate diagnosed with Yunis Varon syndrome, a rare genetic disorder. The case highlights unique clinical features and neuroimaging findings, expanding the syndrome

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Area of Science:

  • Genetics and Developmental Biology
  • Clinical Medicine
  • Pediatric Neurology

Background:

  • Yunis Varon syndrome is a rare autosomal recessive disorder characterized by specific craniofacial and limb anomalies.
  • Previous literature describes key features, but novel presentations require continuous documentation for comprehensive understanding.
  • Consanguinity in parents is a known risk factor for autosomal recessive disorders, increasing the likelihood of affected offspring.

Observation:

  • A neonate presented with microcephaly, wide cranial sutures, prominent eyes, hypertelorism, dysplastic ears, sparse hair, and a cupid bow-like upper lip with median pseudocleft and labio-gingival retraction.
  • Skeletal anomalies included bilateral thumb hypoplasia, absent great toes, and short phalanges.
  • This case uniquely exhibited a median pseudocleft, previously unreported in Yunis Varon syndrome.

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Findings:

  • Computed Tomography (C.T.) revealed underdeveloped gyri, ischemic changes in the temporoparietal region, and bilateral lacunar infarcts within the middle cerebral artery territory.
  • The combination of dysmorphic features, limb abnormalities, and specific neuroimaging findings confirms the diagnosis of Yunis Varon syndrome.
  • The presence of a median pseudocleft and cerebrovascular events adds to the phenotypic spectrum of this rare disorder.

Implications:

  • This case expands the known clinical and radiological spectrum of Yunis Varon syndrome, aiding in future diagnoses.
  • Early identification of Yunis Varon syndrome is crucial for genetic counseling and potential early intervention strategies.
  • Further research into the genetic underpinnings and pathophysiology of Yunis Varon syndrome is warranted.