Document Detail


Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.
MedLine Citation:
PMID:  19014058     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported. A lethal form of Larsen syndrome (Larsen-like syndrome) has been described as a combination of the Larsen phenotype and pulmonary hypoplasia. In this report, we present a 24-week-old female fetus with a possible prenatal diagnosis of thanatophoric dysplasia in whom postmortem examination revealed lethal type Larsen-like syndrome associated with bifid tongue, severe micrognathia and non-immune hydrops fetalis. These findings have not been reported previously in the lethal type Larsen syndrome.
Authors:
Diclehan Orhan; Sevim Balci; Ozgür Deren; Eda Gülen Utine; Ahmet Başaran; Gülsev Kale
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  50     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    2008 Jul-Aug
Date Detail:
Created Date:  2008-11-18     Completed Date:  2008-12-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  Turkey    
Other Details:
Languages:  eng     Pagination:  395-9     Citation Subset:  IM    
Affiliation:
Division of Pediatric Pathology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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MeSH Terms
Descriptor/Qualifier:
Abortion, Induced
Female
Humans
Micrognathism / ultrasonography*
Pregnancy
Syndrome
Thanatophoric Dysplasia / ultrasonography*
Tongue / abnormalities*
Ultrasonography, Prenatal*
Young Adult

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