Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature

J Med Genet. 2002 Dec;39(12):933-4. doi: 10.1136/jmg.39.12.933.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / diagnosis
  • Kidney / abnormalities
  • Male
  • Microcephaly / diagnosis
  • Patella / abnormalities*
  • Phenotype
  • Syndrome
  • Urogenital Abnormalities / diagnosis*