Document Detail

Diaphragmatic hernia in the Coffin-Siris syndrome.
MedLine Citation:
PMID:  9555587     Owner:  NLM     Status:  MEDLINE    
At 32 weeks of gestation, delivery of a female fetus was induced because of severe malformations seen on ultrasonogram: congenital diaphragmatic hernia and cerebellar hypoplasia. The diagnosis of Coffin-Siris syndrome was based on the physical examination: coarse face with low-set ears, low nuchal hairline, scalp hypotrichosis and hypoplasia of the nails of fingers and toes with absence of the right fifth fingernail. Autopsy confirmed the prenatally diagnosed major associated abnormalities: hypoplasia of the cerebellum and congenital diaphragmatic hernia. Various clinical entities are included in the differential diagnosis.
V Delvaux; P Moerman; J P Fryns
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  9     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  1998  
Date Detail:
Created Date:  1998-07-10     Completed Date:  1998-07-10     Revised Date:  2006-07-06    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  45-50     Citation Subset:  IM    
University Hospital St-Rafaël, Department of Pathology I, Leuven, Belgium.
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MeSH Terms
Abnormalities, Multiple / genetics*,  pathology
Abortion, Eugenic
Cerebellum / abnormalities*,  pathology
Diagnosis, Differential
Fetal Death / genetics*,  pathology
Heart Defects, Congenital / genetics,  pathology
Hernia, Diaphragmatic / genetics*,  pathology
Infant, Newborn
Nails, Malformed / genetics,  pathology

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