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Hypoparathyroidism-retardation-dysmorphism syndrome

Kalenahalli Jagadish Kumar1, Halasahalli Chowdegowda Krishna Kumar, Vadambal Gopalakrishna Manjunath

  • 1Department of Pediatrics, JSS Medical College, JSS University, Mysore, Karnataka, India.

Indian Journal of Human Genetics
|December 17, 2013
PubMed

Insights

Sanjad-Sakati syndrome, a rare genetic disorder causing hypoparathyroidism, growth retardation, and facial dysmorphism, is detailed in a case study. The findings highlight a Hindu boy with symptoms consistent with this syndrome.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Sanjad-Sakati syndrome (HRD) is a rare autosomal recessive disorder.
  • It is characterized by hypoparathyroidism, growth retardation, and facial dysmorphism.
  • The syndrome is predominantly observed in children of Arab ethnicity from consanguineous unions.

Observation:

  • A 13-year-old Hindu boy presented with symptoms suggestive of HRD syndrome.
  • Key clinical features included hypoparathyroidism, tetany, facial dysmorphism, and developmental delay.

Findings:

  • The patient's clinical presentation was compatible with the diagnostic criteria for Sanjad-Sakati syndrome.
  • This case expands the known ethnic and geographic observations of HRD syndrome.

Implications:

  • This case underscores the importance of recognizing HRD syndrome in diverse populations.
  • Early diagnosis and management are crucial for improving outcomes in affected children.
  • Further research into the genetic basis and broader clinical spectrum of HRD syndrome is warranted.

Keywords:
HinduSanjad-Sakati syndromehypoparathyroidism-retardation-dysmorphism syndrome

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