Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome

Clin Genet. 1992 Sep;42(3):110-3. doi: 10.1111/j.1399-0004.1992.tb03220.x.


A 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cousin consanguineous marriage. She had striking facies with frontal prominence, deep-set eyes, depressed nasal bridge, beaked nose, long philtrum with thin upper lip, micrognathia, large floppy ears, bifid uvula, and growth retardation with SD score less than -2 for height, weight and head circumference. We believe these features which include congenital hypoparathyroidism, severe growth failure and developmental delay in the absence of chromosomal abnormality represent a newly described genetically determined syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Child, Preschool
  • Failure to Thrive
  • Female
  • Humans
  • Hypoparathyroidism / congenital*
  • Intellectual Disability
  • Seizures
  • Syndrome