Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution

Am J Med Genet. 2002 Jul 15;110(4):370-9. doi: 10.1002/ajmg.10456.

Abstract

We describe a girl who was diagnosed with split foot-split hand anomaly prenatally, in whom at birth the diagnosis of Van Allen-Myhre syndrome was made, and who at 8 months of age was recognized to have Goltz syndrome. Based on the evolution of clinical features in this infant, we suggest that our case, as well as that reported by Van Allen and Myhre, is an example of unusually severe Goltz syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adult
  • Diagnosis, Differential
  • Female
  • Focal Dermal Hypoplasia / pathology*
  • Foot Deformities, Congenital / diagnostic imaging
  • Foot Deformities, Congenital / pathology*
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / pathology*
  • Humans
  • Infant
  • Karyotyping
  • Phenotype
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal