Prenatal sonographic diagnosis of Grebe syndrome

Dwight R. Cordero, Yael Goldberg, Donald Basel, Michael W. Kilpatrick, Susan Klugman, Petros Tsipouras, Susan Gross

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Grebe syndrome or Grebe-type chondrodysplasia, first described in 2 sisters by Grebe, is an autosomal recessive disorder resulting from abnormal skeletal development of the limbs. The phenotype of this nonlethal chondrodysplasia is characterized by severe acromesomelic dysplasia and dysmorphic distal appendages in the context of normal development of the craniofacial and axial skeleton. Although considered a nonlethal chondrodysplasia, a number of cases of Grebe syndrome results in stillbirth or infant mortality. Children with Grebe syndrome have considerable physical limitations but normal intelligence. Obligate carriers have normal stature and can have a variety of mild skeletal abnormalities, including polydactyly, brachydactyly, and positional abnormalities. Here, we report the prenatal diagnosis of Grebe syndrome based on targeted second-trimester sonography.

Original languageEnglish (US)
Pages (from-to)115-118+120
JournalJournal of Ultrasound in Medicine
Volume25
Issue number1
DOIs
StatePublished - Jan 2006

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Radiology Nuclear Medicine and imaging

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    Cordero, D. R., Goldberg, Y., Basel, D., Kilpatrick, M. W., Klugman, S., Tsipouras, P., & Gross, S. (2006). Prenatal sonographic diagnosis of Grebe syndrome. Journal of Ultrasound in Medicine, 25(1), 115-118+120. https://doi.org/10.7863/jum.2006.25.1.115