Frank-Ter Haar syndrome in a newborn

Indian J Pediatr. 2012 Aug;79(8):1091-3. doi: 10.1007/s12098-011-0599-2. Epub 2011 Oct 29.


Frank-Ter Haar syndrome is an unusual type of skeletal dysplasia with megalocornea and developmental delay. It is usually transmitted as autosomal recessive disorder. Only a few cases have been reported in the literature and none from India. The authors report a case with other unusual features and a short review of the condition.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Craniofacial Abnormalities / diagnosis*
  • Developmental Disabilities / diagnosis
  • Fatal Outcome
  • Heart Defects, Congenital / diagnosis*
  • Humans
  • Infant, Newborn
  • Male
  • Osteochondrodysplasias / congenital*
  • Osteochondrodysplasias / diagnosis

Supplementary concepts

  • Ter Haar syndrome