Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness?

Clin Genet. 1997 Jul;52(1):51-5. doi: 10.1111/j.1399-0004.1997.tb02514.x.

Abstract

In this study, we report on two brothers, born to consanguineous parents, with a syndrome of sensorineural deafness, short stature, cryptorchidism, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures, low nasal root, hypoplastic alae and round tip to the nose, low-set prominent ears, narrow thorax, genu valgum, wormian bones, fusion of carpal bones, delayed bone age and congenital clubfeet. This combination of anomalies appears to be a previously undescribed syndrome, with probable autosomal recessive inheritance.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / diagnostic imaging
  • Abnormalities, Multiple* / genetics
  • Adult
  • Bone and Bones / abnormalities
  • Bone and Bones / diagnostic imaging
  • Child
  • Craniofacial Abnormalities* / diagnostic imaging
  • Craniofacial Abnormalities* / genetics
  • Cryptorchidism* / genetics
  • Deafness* / genetics
  • Deafness* / physiopathology
  • Female
  • Genes, Recessive
  • Growth Disorders* / diagnostic imaging
  • Growth Disorders* / genetics
  • Humans
  • Male
  • Pedigree
  • Radiography
  • Syndrome