Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?

Am J Med Genet. 1995 May 22;57(1):22-6. doi: 10.1002/ajmg.1320570107.


The oral-facial-digital syndromes (OFDS) comprise a group of heterogeneous genetic disorders. Considerable clinical overlap exists within the nine described types [Toriello, Clin Dysmorph 2:95-105, 1993], and with other entities such as Pallister-Hall (PH) syndrome and hydrolethalus syndrome, leading to difficulties in the classification of OFDS. We report on two brothers with findings overlapping OFDS II, VI, and Pallister-Hall syndrome who had congenital absence of the pituitary gland. This may represent a new type of OFDS or, alternatively, an example of phenotypic variability within the OFDS. It also emphasizes that agenesis of the pituitary gland can occur in a variety of syndromes with midline defects.

Publication types

  • Case Reports

MeSH terms

  • Face / abnormalities*
  • Fingers / abnormalities*
  • Foot Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Hydrocortisone / blood
  • Infant, Newborn
  • Male
  • Mouth Abnormalities / genetics*
  • Pituitary Gland / abnormalities*
  • Pituitary Hormones / blood*
  • Pituitary Hormones / therapeutic use
  • Syndrome
  • Testosterone / blood
  • Thyroxine / blood


  • Pituitary Hormones
  • Testosterone
  • Thyroxine
  • Hydrocortisone