Familial bird-headed dwarfism (Seckel's syndrome)

J Med Genet. 1973 Jun;10(2):196-8. doi: 10.1136/jmg.10.2.196.

Abstract

Low birth weight dwarfism with mental retardation, large eyes, a beaklike nose, narrow face, receding mandible, and dental anomalies are the specific features of `bird-headed dwarf of Seckel'. The following case report presents details of a Seckel dwarf with familial occurrence of the trait and, thus supports an autosomal recessive mode of inheritance. In addition, the possible significance of dental alterations is noted.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Bone Diseases / genetics*
  • Cephalometry
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosome Disorders
  • Dwarfism / genetics*
  • Facial Expression*
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Oral Manifestations
  • Pedigree