Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs

Am J Med Genet. 1991 Jan;38(1):25-8. doi: 10.1002/ajmg.1320380107.


A term amelic female infant was born to an apparently nonconsanguineous Arab Moslem couple. This was followed by the birth of 4 normal children. Afterwards, in 2 subsequent pregnancies, 2 amelic fetuses were diagnosed by transabdominal ultrasonography in the 18th and 12th week of gestation. Pregnancies were terminated and on autopsy both amelic fetuses had severe lung hypoplasia and aplasia of the peripheral pulmonary vessels. The first fetus also had apparently low-set ears and micrognathia, whereas the last had hydrocephaly and left cleft lip beside the lung hypoplasia and aberrant pulmonary artery. This appears to be a new autosomal recessive malformation syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Ectromelia / complications
  • Ectromelia / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Lung / abnormalities*
  • Male
  • Recurrence