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Rabson-Mendenhall syndrome.

Sarita Kumar1, Milind S Tullu, Mamta N Muranjan

  • 1The Genetics Division, Department of Pediatrics, Seth G. S. Medical College and KEM Hospital, Parel, Mumbai 400 012, India.

Indian Journal of Medical Sciences
|March 2, 2005
PubMed
Summary

Rabson-Mendenhall syndrome is a rare genetic disorder. This case study highlights a six-month-old infant exhibiting typical features and novel medullary nephrocalcinosis.

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Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Rabson-Mendenhall syndrome is a rare autosomal recessive disorder.
  • Characterized by insulin resistance, hyperinsulinemia, and distinctive physical features.
  • Includes growth retardation, acanthosis nigricans, dysmorphic facial features, and endocrine abnormalities.

Observation:

  • A six-month-old female infant presented with clinical features consistent with Rabson-Mendenhall syndrome.
  • The infant displayed growth retardation, dysmorphisms, acanthosis nigricans, and hirsutism.
  • Notably, the child also exhibited medullary nephrocalcinosis, a finding not previously reported in this syndrome.

Findings:

  • The patient's presentation aligns with the known phenotypic spectrum of Rabson-Mendenhall syndrome.
  • The presence of medullary nephrocalcinosis represents a novel association.
  • This suggests potential renal involvement or a broader spectrum of complications in this syndrome.

Implications:

  • This case expands the known clinical manifestations of Rabson-Mendenhall syndrome.
  • Highlights the importance of comprehensive evaluation in affected individuals.
  • Further research may elucidate the genetic and molecular mechanisms underlying the renal findings.

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