Document Detail

Three-dimensional ultrasound in the prenatal diagnosis of cleidocranial dysplasia associated with B-cell immunodeficiency.
MedLine Citation:
PMID:  16619383     Owner:  NLM     Status:  MEDLINE    
A patient with a singleton pregnancy was referred for three-dimensional ultrasonography (3DUS) at 18 + 3 weeks for suspected hypomineralization of the skull bones and absence of the nasal bones. Three-dimensional rendered images of the fetal skull revealed widening of the coronal sutures, absence of the squamous portion of the temporal bone, and absence of the occipital bone, except for two areas of ossification. In addition, a fractured right clavicle was identified. The remainder of the fetal anatomy was normal and biometry was appropriate for gestational age. Genetic amniocentesis revealed a 46,XX fetal karyotype. Family history was positive for a 5-year-old sibling with an open anterior fontanelle. Cleidocranial dysplasia was suspected. A female neonate was delivered by elective repeat Cesarean section at 40 + 3 weeks of gestation without complications and discharged home 3 days after delivery. Prenatal diagnosis was confirmed by physical and radiological evaluation. The infant died at 8 weeks of age due to respiratory syncytial virus pneumonia secondary to B-cell deficiency. RUNX2 mutations were not detected by molecular analysis. There are three relevant aspects to this case: (1) clear visualization of the widened fontanelles and hypomineralized occipital bones was possible with the use of 3DUS; (2) a clavicular fracture was identified in utero with combined high-resolution two-dimensional and 3DUS; and (3) although absence of the nasal bones is most commonly observed in fetuses with chromosomal disorders (e.g. trisomy 21 and trisomy 18), a careful examination of the skeleton should be considered in fetuses with absent nasal bones and a normal karyotype.
E Soto; K Richani; L F Gonçalves; P Devers; J Espinoza; W Lee; M C Treadwell; R Romero
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Intramural; Review    
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  27     ISSN:  0960-7692     ISO Abbreviation:  Ultrasound Obstet Gynecol     Publication Date:  2006 May 
Date Detail:
Created Date:  2006-04-25     Completed Date:  2006-12-07     Revised Date:  2009-11-03    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  England    
Other Details:
Languages:  eng     Pagination:  574-9     Citation Subset:  IM    
Copyright Information:
Copyright 2006 ISUOG
Perinatology Research Branch, NICHD, NIH, DHHS, Detroit, Michigan 48201, USA.
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MeSH Terms
B-Lymphocytes / immunology
Cleidocranial Dysplasia / complications,  ultrasonography*
Fatal Outcome
Imaging, Three-Dimensional*
Immunologic Deficiency Syndromes / complications,  ultrasonography*
Infant, Newborn
Pregnancy Trimester, Second
Respiratory Syncytial Virus Infections / complications
Ultrasonography, Prenatal / methods*

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