Published July 1980
| Version v1
Journal article
Spondyloepiphyseal dysplasia congenita
Creators
- 1. Texas Univ., San Antonio (USA). Dept. of Radiology
- 2. Rochester Univ., NY (USA). Medical Center
Description
Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed. (orig.)
Abstract (German)
Dysplasia spondyloepiphysaria congenita ist eine Form von Zwergenwuchs mit meist kurzem Rumpf, die bereits bei der Geburt sichtbar ist, aber bisher nicht als letal angesehen wurde. Es wird ueber sieben Neugeborene mit schwerem Zwergenwuchs berichtet, von denen nur eines das Neugeborenenalter ueberlebte. Alle zeigten die klinischen und radiologischen Merkmale von Dysplasia spondyloepiphrasia congenita. Die Aehnlichkeit zwischen dieser Krankheit und der Achondrogenese des zweiten Typus werden diskutiert. (orig.)Additional details
Additional titles
- Subtitle (English)
- A cause of lethal neonatal dwarfism
Publishing Information
- Journal Title
- Pediatr. Radiol.
- Journal Volume
- 9
- Journal Issue
- 4
- Series
- Pediatr. Radiol.
- Journal Page Range
- 217-224
- ISSN
- 0301-0449
INIS
- Country of Publication
- Germany
- Country of Input or Organization
- Germany
- INIS RN
- 13653709
- Subject category
- S62: RADIOLOGY AND NUCLEAR MEDICINE;
- Descriptors DEI
- ABDOMEN; AUTOPSY; BIOMEDICAL RADIOGRAPHY; BONE TISSUES; CHEST; CONGENITAL DISEASES; CONGENITAL MALFORMATIONS; DIAGNOSIS; HEAD; NECK; NEONATES; PELVIS; RESPIRATORY SYSTEM DISEASES; TONGUE; VERTEBRAE; X-RAY RADIOGRAPHY
- Descriptors DEC
- ANIMALS; BODY; BODY AREAS; CONNECTIVE TISSUE; DIAGNOSTIC TECHNIQUES; DIGESTIVE SYSTEM; DISEASES; MALFORMATIONS; MEDICINE; ORAL CAVITY; ORGANS; PATHOLOGICAL CHANGES; SKELETON; TISSUES