Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report

Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1092-4. doi: 10.1016/j.ijporl.2010.06.011. Epub 2010 Jul 15.

Abstract

Hypoglossia is a rare congenital anomaly and is frequently associated with limb anomalies. In 1971, Hall employed the term hypoglossia-hypodactylia syndrome for the classification of these oromandibular-limb hypogenesis syndromes. The syndrome is characterized by hypoglossia, micrognathia mandible and variable degrees of limb abnormalities, frequent gingival abnormalities, and an absence of mandibular incisors. We describe an unusual case of hypoglossia-hypodactylia syndrome. The newborn had hypoglossia, limb defects and complex congenital cardiopathy, which has to date never been reported to be associated to this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Female
  • Fingers / abnormalities*
  • Heart Defects, Congenital*
  • Humans
  • Infant, Newborn
  • Mouth Abnormalities
  • Syndrome
  • Tongue / abnormalities*