Frank-Ter Haar syndrome in a newborn

  • Indian J Pediatr. 2012 Aug;79(8):1091-3. doi: 10.1007/s12098-011-0599-2.
P Femitha  1 ,  Rojo Joy ,  Bahubali D Gane ,  B Adhisivam ,  B Vishnu Bhat
Affiliations
  • 1. Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry 605 006, India.
PMID: 22037860 DOI: 10.1007/s12098-011-0599-2
Abstract

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.