Document Detail

Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling.
MedLine Citation:
PMID:  12599182     Owner:  NLM     Status:  MEDLINE    
Severe localized and symmetric bowing of the femora, in the absence of other significant skeletal or nonskeletal abnormalities, is a rare prenatal ultrasound finding. A 38-year-old woman was referred at 19 weeks gestation and ultrasound of the fetus showed severe shortening, and marked symmetric bowing of the femora. A provisional diagnosis of kyphomelic dysplasia (KD) was made. The patient elected termination of pregnancy and post mortem assessments were most consistent with kyphomelic dysplasia. KD is bent-bone skeletal dysplasia that, in contrast to campomelic dysplasia, involves principally the femora with relative sparing of the remainder of the skeleton. KD can be difficult to distinguish, particularly from symmetric cases of femoral hypoplasia unusual facies syndrome (FH-UFS), and few prenatal diagnoses have been reported. Because KD is thought to an be autosomal recessive disorder, the possibility that definitive diagnosis may not be possible prenatally, and even by postmortem assessment in cases choosing to abort, is an important counseling consideration.
Peter G Pryde; C Zelop; R M Pauli
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  117A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Mar 
Date Detail:
Created Date:  2003-02-24     Completed Date:  2003-08-07     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  203-6     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of Wisconsin, Meriter Hospital, 202 S. Park Street, Madison, WI 53715, USA.
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MeSH Terms
Bone Diseases, Developmental / diagnosis*
Diagnosis, Differential
Femur / abnormalities*,  ultrasonography
Fetal Diseases / diagnosis*
Genetic Counseling
Gestational Age
Ultrasonography, Prenatal*

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