Document Detail

Sonography of facial features of alobar and semilobar holoprosencephaly.
MedLine Citation:
PMID:  2104699     Owner:  NLM     Status:  MEDLINE    
Twenty-seven cases of alobar/semilobar holoprosencephaly were reviewed to determine and classify the associated facial abnormalities detected with prenatal sonography. All but one case were diagnosed prospectively with sonography. Facial abnormalities were present in 24 of 27 cases and were detected in 14 (58%) of 24 fetuses on prenatal sonography. Prenatal abnormalities detected by sonography included cyclopia (four of five), ethmocephaly (two of three), cebocephaly (one of three), midline cleft lip (four of eight), lateral cleft lip (two of two), and mild hypotelorism (one of three). One or more extrafacial anomalies were present in 14 (52%) of 27 fetuses. Other major structural anomalies detected prenatally by sonography included meningomyelocele (two of two), renal dysplasia (five of six), omphalocele (three of four), esophageal atresia (zero of three), and cardiac defects (one of seven). Chromosomal analysis revealed abnormal karyotype in 13 (50%) of the 26 fetuses in which it was performed; the most common abnormality was trisomy 13 (seven cases). The perinatal mortality rate was 89% (24 of 27); three neonates with holoprosencephaly were alive when discharged from the hospital. It is concluded that when a major cystic abnormality of the fetal brain is detected, prenatal sonographic analysis of midline facial defect may allow more definitive diagnosis of alobar or semilobar holoprosencephaly; affected fetuses often have other major structural abnormalities, and the outcome is nearly always fatal.
J P McGahan; D A Nyberg; L A Mack
Related Documents :
8942839 - Prenatal diagnosis of triploidy during the second trimester of pregnancy.
12012639 - Prenatal diagnosis and postnatal outcome of cardiac rhabdomyomas.
9563039 - Infantile hemangioendothelioma of the liver associated with anomalous dilated and tortu...
16098859 - Comparison of transvaginal sonography with digital examination and transabdominal sonog...
17707429 - Incidence based fetal urological counseling using the virtual pediatric urology registr...
22209209 - Intraosseous pseudotumor of the distal radius in a patient with hemophilia: case report.
18251989 - Pneumonyssoides species infestation in two pekingese dogs in the uk.
19840329 - Solitary cutaneous leiomyoma in an infant.
23742649 - Early aggressive macrovascular disease and type 1 diabetes mellitus without chronic com...
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  AJR. American journal of roentgenology     Volume:  154     ISSN:  0361-803X     ISO Abbreviation:  AJR Am J Roentgenol     Publication Date:  1990 Jan 
Date Detail:
Created Date:  1990-02-01     Completed Date:  1990-02-01     Revised Date:  2008-02-15    
Medline Journal Info:
Nlm Unique ID:  7708173     Medline TA:  AJR Am J Roentgenol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  143-8     Citation Subset:  AIM; IM    
Department of Diagnostic Radiology, University of California, Davis Medical Center, Sacramento 95817.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abnormalities, Multiple / diagnosis*,  genetics
Brain / abnormalities*
Facial Bones / abnormalities*
Infant, Newborn
Prenatal Diagnosis*
Prospective Studies

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Ovarian teratomas: a comparison of the sonographic appearance in prepubertal and postpubertal girls.
Next Document:  Assessment of extradural degenerative disease with Gd-DTPA-enhanced MR imaging: correlation with sur...