Growth hormone deficiency, wormian bones, dextrocardia, brachycamptodactyly, and other midline defects

Am J Med Genet. 1989 Feb;32(2):169-73. doi: 10.1002/ajmg.1320320205.

Abstract

We report on a 17-month-old boy with Wormian bones, short stature, growth hormone deficiency, developmental delay, brachycamptodactyly, dextrocardia, cryptorchidism, midshaft hypospadias, hypoplastic left kidney, and imperforate anus. This unique combination of abnormalities has not been reported previously.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Anus, Imperforate / genetics
  • Bone Diseases, Developmental / genetics*
  • Child Development
  • Contracture / genetics
  • Cryptorchidism / genetics
  • Dextrocardia / genetics*
  • Ductus Arteriosus, Patent / genetics
  • Fingers / abnormalities*
  • Growth Hormone / deficiency*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Hypospadias / genetics
  • Infant
  • Male

Substances

  • Growth Hormone