| Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1. | |
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MedLine Citation:
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PMID: 9779808 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Atelosteogenesis type 1 (AO1) is a rare lethal chondrodysplasia characterized by incomplete ossification of cartilage anlagen. Histologically, the cartilage contains irregular clusters that occasionally include giant chondrocytes. Pulmonary hypoplasia is a characteristic finding that has been presumed to be the cause of neonatal lethality. We report on a male fetus with AO1 and document the early ultrasonographic/ radiologic progression of this disorder from 15 weeks gestation until delivery at 41 weeks. While the radiological findings we describe are typical of AO1 by the lack of proximal and middle phalangeal ossification, the complete radiological picture showed considerable overlap with boomerang dysplasia. Although pulmonary hypoplasia was present, it was moderate and considered unlikely to be the sole cause of death. Detailed neonatal and postmortem examination showed severe subglottic hypoplasia and tracheomalacia. The tracheal walls were supported by thin and pliable cartilaginous plates that allowed luminal collapse with minimal pressure. The marked luminal narrowing, tracheomalacia, and temporal proximity of extubation to demise support tracheal collapse as a major contributor to the death in AO1. The detailed description of this patient should contribute to earlier diagnosis of this condition; anticipation of the poor prognosis in AO1 is essential for appropriate genetic counseling of the parents and for determining postnatal treatment options. |
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Authors:
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B A Bejjani; K C Oberg; I Wilkins; A Moise; C Langston; A Superti-Furga; J R Lupski |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics Volume: 79 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1998 Oct |
Date Detail:
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Created Date: 1999-06-02 Completed Date: 1999-06-02 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 392-5 Citation Subset: IM |
Affiliation:
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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. bbejjani@bcm.tmc.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology Bone and Bones / abnormalities*, pathology, radiography, ultrasonography* Female Gestational Age Humans Infant, Newborn Limb Deformities, Congenital / pathology, radiography, ultrasonography Male Pregnancy Prenatal Diagnosis |
| Grant Support | |
ID/Acronym/Agency:
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K08 EY00370/EY/NEI NIH HHS; K08 HD01204/HD/NICHD NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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