Further delineation of Nevo syndrome

L. I. Al-Gazali, D. Bakalinova, E. Varady, J. Scorer, M. Nork

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)

Abstract

Nevo syndrome is an autosomal recessive syndrome characterised by prenatal overgrowth, joint laxity, kyphosis, wrist drop, spindle shaped fingers, and volar oedema. Four children from two families have been reported previously. We report two further children from two unrelated Arab families from two different tribes. Both presented at birth with hypotonia, joint laxity, kyphosis, wrist drop, spindle shaped fingers, and volar oedema. Both have delayed motor development at the ages of 2 years 10 months and 3 months respectively. Cognitive development is normal in one, and the other case appears to be developing normally at 3 months of age. One has, in addition, a wide spinal canal on MRI of the spine indicating some degree of dural ectasia. This report brings the total number of children reported with this syndrome to six from four families; three of these families are Arab. This indicates that the gene for this syndrome is probably commoner in Arabs than in other populations.

Original languageEnglish
Pages (from-to)366-370
Number of pages5
JournalJournal of medical genetics
Volume34
Issue number5
DOIs
Publication statusPublished - 1997

Keywords

  • Arabs
  • Joint laxity
  • Overgrowth

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Further delineation of Nevo syndrome'. Together they form a unique fingerprint.

Cite this