The pointer syndrome: A new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties

A. H.M.Mahbubul Huq, Richard M. Braverman, Frank Greenberg, Carlos A. Bacino, David L. Rimoin, Ralph S. Lachman, Michael L. Levin

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish
Pages (from-to)225-230
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume68
Issue number2
DOIs
StatePublished - Jan 20 1997

Keywords

  • camptodactyly
  • neonatal feeding difficulties
  • skeletal abnormalities

Fingerprint

Dive into the research topics of 'The pointer syndrome: A new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties'. Together they form a unique fingerprint.

Cite this