Three sibs with microcephaly, congenital heart disease, lung segmentation defects and unilateral absent kidney: a new recessive multiple congenital anomaly (MCA) syndrome?

Clin Dysmorphol. 1996 Apr;5(2):129-34. doi: 10.1097/00019605-199604000-00004.


We present three sibs with similar dysmorphic features, including brain, heart and lung malformations that have not been reported previously. Cytogenetic studies have failed to demonstrate a chromosomal abnormality. Although parental consanguinity was not present, we suggest that this may constitute a new recessive syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / classification
  • Abnormalities, Multiple / genetics*
  • Adult
  • Female
  • Genes, Recessive
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities*
  • Lung / abnormalities*
  • Male
  • Microcephaly / genetics*
  • Nuclear Family
  • Pregnancy
  • Prenatal Diagnosis
  • Syndrome