Oto-palato-digital syndrome type II in two unrelated boys

Clin Genet. 1994 Mar;45(3):154-61. doi: 10.1111/j.1399-0004.1994.tb04013.x.


We report on two boys with oto-palato-digital syndrome type II, characterized by growth retardation, bowed long bones, missing or hypoplastic fibulae, sclerosis of the skull base and wavy, irregular clavicles and ribs. The facial appearance is distinctive due to prominent forehead, widely spaced eyes, antimongologid slant of palpebral fissures, flattened nasal bridge and retrogenia. The mother of one patient showed a mild manifestation of oto-palato-digital syndrome type II. Only about 20 cases of this rare X-linked disorder have been reported so far. The similarities and dissimilarities to oto-palato-digital syndrome type I are discussed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adult
  • Deafness / congenital
  • Dwarfism / genetics*
  • Ear / abnormalities
  • Epilepsy / congenital
  • Female
  • Fibula / abnormalities
  • Foot Deformities, Congenital
  • Funnel Chest
  • Hand Deformities, Congenital
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital*
  • Male
  • Mouth Abnormalities
  • Skull / abnormalities*
  • Syndrome
  • X Chromosome*