Document Detail

Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia.
MedLine Citation:
PMID:  8291529     Owner:  NLM     Status:  MEDLINE    
Atelosteogenesis I (AT-I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. The possibility of a common cause of both conditions was suggested by Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991) in their report of a patient with apparent manifestations of both AT-I and Boomerang dysplasia. We report on a male fetus of 31 weeks gestation whose clinical, radiologic and histologic findings are compared to reported cases of AT-I, Boomerang dysplasia and the patient of Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991). From the documentation of clinical and radiologic findings we demonstrate overlap of AT-I and Boomerang dysplasia in our patient, and, from histologic examination, suggest a defect of cartilage and bone formation as the basic abnormality in this lethal bone dysplasia.
M T Greally; T Jewett; W L Smith; G D Penick; R A Williamson
Related Documents :
14564219 - Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia.
8710779 - Langer mesomelic dwarfism: ultrasonographic diagnosis of two cases in early mid-trimester.
10664159 - Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heter...
25306769 - Quality control analytical methods: microbial limit tests for nonsterile pharmaceutical...
18493899 - Chiari malformation caused by craniometaphyseal dysplasia: case report and review of li...
7182189 - Thanatophoric dysplasia with cloverleaf-skull. case report and review of the literature.
19805959 - Mucinous tubular and spindle cell carcinoma of kidney: a rare case report and review of...
19796419 - How to read a review paper.
17355809 - Large erupting complex odontoma: a case report.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  47     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1993 Nov 
Date Detail:
Created Date:  1994-02-24     Completed Date:  1994-02-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1086-91     Citation Subset:  IM    
Department of Pediatrics/Division of Genetics, University of Iowa Hospitals and Clinics, Iowa City.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Bone Diseases, Developmental / genetics*,  pathology,  ultrasonography
Genes, Dominant
Genes, Lethal
Infant, Newborn
Puberty, Precocious / genetics
Ultrasonography, Prenatal

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.
Next Document:  Limb deficiencies, chorion villus sampling, and advanced maternal age.