Apparently new "anophthalmia-plus" syndrome in sibs

Am J Med Genet. 1995 Aug 28;58(2):113-4. doi: 10.1002/ajmg.1320580204.

Abstract

The index patient of this report is a 17-week-gestation female fetus with bilateral anophthalmia, bilateral cleft lip/cleft palate, macrotia with bilateral lateral facial cleft, large open sacral neural tube defect, and uterus unicornis. Parents were normal and nonconsanguineous with an unremarkable family history. Their first child, a 4-year-old boy, is normal. The second child, a 2 1/2-year-old boy, has bilateral anophthalmia and an abnormal left ear with absent lobule as the sole additional anomaly. These 2 sibs seem to be the first examples of a new "anophthalmia-plus" syndrome apparently inherited as autosomal-recessive.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anophthalmos / genetics*
  • Child, Preschool
  • Ear / abnormalities
  • Female
  • Genes, Recessive
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Pregnancy
  • Prenatal Diagnosis