The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties

Am J Med Genet. 1997 Jan 20;68(2):225-30. doi: 10.1002/(sici)1096-8628(19970120)68:2<225::aid-ajmg21>3.0.co;2-v.

Abstract

We describe a brother and sister with a unique combination of skeletal findings including camptodactyly (phalangeal dislocations), facial anomalies, neonatal respiratory problems, and feeding problems due to poor suck. Metaphyseal splaying, osteopenia, endosteal bone apposition, campomelia, and multiple fractures characterize the other skeletal abnormalities. The parents are first cousins once removed and are unaffected. These cases appear to represent a previously undescribed autosomal recessive disorder.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Bone and Bones / abnormalities
  • Bone and Bones / diagnostic imaging
  • Child, Preschool
  • Facial Bones / abnormalities
  • Feeding and Eating Disorders / complications
  • Feeding and Eating Disorders / diagnosis
  • Female
  • Humans
  • Infant, Newborn
  • Lung Diseases / complications
  • Lung Diseases / diagnosis
  • Male
  • Radiography
  • Sucking Behavior
  • Syndrome