Congenital hypoparathyroidism, ocular colobomata, unilateral renal agenesis and dysmorphic features

Genet Couns. 1991;2(4):245-7.

Abstract

A boy with primary hypoparathyroidism and dysmorphic features suggesting a partial DiGeorge sequence is presented. Different possibilities of genetic counseling are considered in the absence of a definitive etiological diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Child
  • Coloboma / genetics*
  • DiGeorge Syndrome / diagnosis
  • DiGeorge Syndrome / genetics*
  • Genetic Counseling
  • Humans
  • Hypoparathyroidism / diagnosis
  • Hypoparathyroidism / genetics*
  • Hypoparathyroidism / pathology
  • Kidney / abnormalities*
  • Male
  • Parathyroid Hormone
  • Tomography, X-Ray Computed

Substances

  • Parathyroid Hormone