| The thanatophoric dwarf. A report on two cases. | |
| | |
MedLine Citation:
|
PMID: 948574 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Two cases of thanatophoric dwarfism are presented. At external physical examination this anomaly is not readily distinguishable from achondroplasia and other forms of congenital disproportionate dwarfism. Radiologically, however, characteristic skeletal changes are demonstrable. The diagnosis can be made in utero. The clinical course is invariably fatal. The hereditary aspects, of importance for genetic counseling of parents, are still unexplained. The patients discussed show the typical thanatophoric skeletal changes in combination with a form of synostosis, i.e. bilateral radioulnar synostosis in one case, and synostosis of the coronal sutures and the lambdoid suture in the other. Emphasis is placed on the importance of radiological examination in cases of unexplained hydramnion and perinatal death. |
| | |
Authors:
|
C R Staalman |
Related Documents
:
|
15125754 - Postlactational microcalcifications. 7420124 - Cortical deafness--a case report and review of the literature. 8014544 - The radiological anatomy of the scaphoid. part 1: osteology. 15148554 - Central osteosclerosis with trichothiodystrophy. 512464 - Radiation-induced fibrosarcoma of the mandible following treatment for bilateral retino... 15448394 - Bronchial foreign bodies. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Radiologia clinica Volume: 45 ISSN: 0376-6748 ISO Abbreviation: Radiol Clin (Basel) Publication Date: 1976 |
Date Detail:
|
Created Date: 1976-10-01 Completed Date: 1976-10-01 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 7513002 Medline TA: Radiol Clin (Basel) Country: SWITZERLAND |
Other Details:
|
Languages: eng Pagination: 242-50 Citation Subset: IM |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Dwarfism
/
congenital,
radiography* Humans Infant Mortality* Infant, Newborn Infant, Premature, Diseases / radiography* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Roentgen diagnosis of traumatic rupture of the aorta.
Next Document: Negligible and non-negligible risks in radiodiagnostic examination of patients.