Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location

Details

Serval ID
serval:BIB_78DC4BCD37E8
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location
Journal
American Journal of Medical Genetics. Part A
Author(s)
Tan  T. Y., McGillivray  G., Kornman  L., Fink  A. M., Superti-Furga  A., Bonafe  L., Francis  D. I., Savarirayan  R.
ISSN
1552-4825
Publication state
Published
Issued date
06/2005
Peer-reviewed
Oui
Volume
135
Number
3
Pages
324-7
Notes
Case Reports
Journal Article --- Old month value: Jun 15
Abstract
Autosomal recessive omodysplasia (ARO), a rare congenital skeletal dysplasia, is characterized by micromelia and craniofacial anomalies. Upper and lower limbs are affected in contrast to the dominant form in which the lower limbs are normal. Radiographic features include shortening and distal tapering of the humerus and femur, proximal radioulnar diastasis, and anterolateral radial head dislocation. We present a recurrence of ARO in a family, detected on prenatal ultrasound at 13 weeks of gestation. Chromosome analysis of the products of conception and the affected sibling showed a paternally-inherited paracentric inversion of 15q13 to q21.3. Due to similarities in the clinical phenotype between diastrophic dysplasia and this condition, testing for DTDST mutation was performed with no mutation detected.
Keywords
Anion Transport Proteins Bone Diseases, Developmental/*genetics/radiography/ultrasonography Carrier Proteins/genetics Chromosome Banding Chromosomes, Human, Pair 15/genetics Female Genes, Recessive/*genetics Humans Infant, Newborn Inversion, Chromosome Karyotyping Membrane Transport Proteins Mutation Pregnancy Ultrasonography, Prenatal
Pubmed
Web of science
Create date
21/01/2008 12:50
Last modification date
20/08/2019 14:35
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