NDLI: Thanatophoric dysplasia: autopsy findings over a 25-year period.

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Thanatophoric dysplasia: autopsy findings over a 25-year period.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Vogt, Christina Blaas, Harm-Gerd K.
Description	Country affiliation: Norway Author Affiliation: Vogt C ( Department of Pathology and Medical Genetics, St Olavs Hospital, Trondheim University Hospital, Trondheim, Norway. christina.vogt@ntnu.no)
Abstract	The aim of our study was to retrospectively assess morphological findings in thanatophoric dysplasia, particularly, in how many cases were cerebral manifestations with temporal lobe dysplasia identified. We also wanted to register and analyze the proportions between lung, brain, and body weight. Criteria for inclusion were an autopsy performed during the period ranging from 1985 to 2009 with a diagnosis of thanatophoric dysplasia. During a 25-year period 25 cases of thanatophoric dysplasia were registered. Temporal lobe dysplasia was recognized in 52% of the cases, and after 1998 temporal lobe dysplasia was described in all cases. In 19 cases the brain/body weight ratio was increased, and in all cases the lung/body weight ratio was below the corresponding ratio calculated according to standard measurements. In all but one case the ratio of brain to lung weight was increased. This study focuses on morphological findings, stressing the importance of temporal lobe dysplasia in confirming a diagnosis of thanatophoric dysplasia. Lung/body, brain/body, and brain/lung weight ratios confirm macrocephaly and lung hypoplasia, which are constant findings in cases involving thanatophoric dysplasia. Femur and brain morphology inclusive histology remains the ultimate tool for confirmation of this lethal condition, although it has to be seen in a context inclusive of radiological examination.
File Format	HTM / HTML
ISSN	10935266
Issue Number	3
Journal	Pediatric and Developmental Pathology
Volume Number	16
e-ISSN	16155742
Language	English
Publisher	Sage Publication
Publisher Date	2013-05-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Pathology Discipline Pediatrics Thanatophoric Dysplasia Pathology Autopsy Humans Epidemiology Journal Article
Content Type	Text
Resource Type	Article
Subject	Pathology and Forensic Medicine Pediatrics, Perinatology and Child Health

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