| ATELOSTEOGENESIS TYPE I; AUTOPSY FINDINGS. | |
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MedLine Citation:
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PMID: 21985323 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Abstract We have documented the clinical, radiological and autopsy findings of two foetuses with Atelosteogenesis type I, aged 22 and 17 weeks respectively. This rare autosomal dominant lethal skeletal dysplasia is caused by mutation in the Filamin B gene. The 17 week foetus had some features of Atelosteogenesis Type II, notably "hitch-hiker thumbs", a cleft palate and mid-facial flattening. The histological demonstration of giant cells in the growth plate cartilage confirmed the diagnosis of AO-I in both foetuses, thereby facilitating accurate prediction of recurrence risks for the parents of the affected foetuses. Autopsy findings included tracheal narrowing and stenosis with pulmonary hypoplasia in both foetuses. Renal microcysts and abnormal branching of the pancreatic duct were also present in one of the foetuses while malrotation of the caecum and retinal dysplasia involving the optic nerve were identified in the other. Post-mortem and histological investigations play an important role in the elucidation of the genetic micromelic skeletal disorders which are lethal in the foetus and neonate. Key Words: Autopsy, Dwarfism, Genetic, Skeletal. |
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Authors:
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Annasu Wessels; Helen Cecilia Wainwright; Peter Beighton |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-10-10 |
Journal Detail:
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Title: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Volume: - ISSN: 1093-5266 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-11 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9809673 Medline TA: Pediatr Dev Pathol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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a University of Cape Town, Division of Anatomical Pathology. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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