Prenatal sonographic diagnosis of Grebe syndrome

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

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)
JournalJournal of Ultrasound in Medicine
Volume25
Issue number1
StatePublished - Jan 2006

Fingerprint

Prenatal Diagnosis
Enchondromatosis
abnormalities
appendages
phenotype
Brachydactyly
intelligence
mortality
Polydactyly
limbs
musculoskeletal system
Stillbirth
Infant Mortality
Second Pregnancy Trimester
Intelligence
Skeleton
disorders
Siblings
Ultrasonography
Extremities

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology
  • Acoustics and Ultrasonics

Cite this

Cordero, D. R., Goldberg, Y., Basel, D., Kilpatrick, M. W., Klugman, S. D., Tsipouras, P., & Gross, S. (2006). Prenatal sonographic diagnosis of Grebe syndrome. Journal of Ultrasound in Medicine, 25(1).

Prenatal sonographic diagnosis of Grebe syndrome. / Cordero, Dwight R.; Goldberg, Yael; Basel, Donald; Kilpatrick, Michael W.; Klugman, Susan D.; Tsipouras, Petros; Gross, Susan.

In: Journal of Ultrasound in Medicine, Vol. 25, No. 1, 01.2006.

Research output: Contribution to journalArticle

Cordero, DR, Goldberg, Y, Basel, D, Kilpatrick, MW, Klugman, SD, Tsipouras, P & Gross, S 2006, 'Prenatal sonographic diagnosis of Grebe syndrome', Journal of Ultrasound in Medicine, vol. 25, no. 1.
Cordero DR, Goldberg Y, Basel D, Kilpatrick MW, Klugman SD, Tsipouras P et al. Prenatal sonographic diagnosis of Grebe syndrome. Journal of Ultrasound in Medicine. 2006 Jan;25(1).
Cordero, Dwight R. ; Goldberg, Yael ; Basel, Donald ; Kilpatrick, Michael W. ; Klugman, Susan D. ; Tsipouras, Petros ; Gross, Susan. / Prenatal sonographic diagnosis of Grebe syndrome. In: Journal of Ultrasound in Medicine. 2006 ; Vol. 25, No. 1.
@article{6db42e0d3ef84ee6ad2a9ba640023a33,
title = "Prenatal sonographic diagnosis of Grebe syndrome",
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.",
author = "Cordero, {Dwight R.} and Yael Goldberg and Donald Basel and Kilpatrick, {Michael W.} and Klugman, {Susan D.} and Petros Tsipouras and Susan Gross",
year = "2006",
month = "1",
language = "English (US)",
volume = "25",
journal = "Journal of Ultrasound in Medicine",
issn = "0278-4297",
publisher = "American Institute of Ultrasound in Medicine",
number = "1",

}

TY - JOUR

T1 - Prenatal sonographic diagnosis of Grebe syndrome

AU - Cordero, Dwight R.

AU - Goldberg, Yael

AU - Basel, Donald

AU - Kilpatrick, Michael W.

AU - Klugman, Susan D.

AU - Tsipouras, Petros

AU - Gross, Susan

PY - 2006/1

Y1 - 2006/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=30144439373&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=30144439373&partnerID=8YFLogxK

M3 - Article

C2 - 16371562

AN - SCOPUS:30144439373

VL - 25

JO - Journal of Ultrasound in Medicine

JF - Journal of Ultrasound in Medicine

SN - 0278-4297

IS - 1

ER -