Document Detail

Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.
MedLine Citation:
PMID:  10069704     Owner:  NLM     Status:  MEDLINE    
A male patient with aphallia, anal stenosis, tetralogy of Fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries.
K W Gripp; M Barr; G Anadiotis; D M McDonald-McGinn; S A Zderic; E H Zackai
Related Documents :
20951974 - Retinal thickness in the offspring of diabetic pregnancies.
23459254 - Placental histopathological changes associated with plasmodium vivax infection during p...
23359404 - Safe lists for medications in pregnancy: inadequate evidence base and inconsistent guid...
23911754 - Valproate dose effects differ across congenital malformations.
15261944 - Impact of pregnancy on the systemic right ventricle after a mustard operation for trans...
8854284 - Bacterial vaginosis in pregnancy and preterm birth: evidence from the literature.
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  82     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1999 Feb 
Date Detail:
Created Date:  1999-05-17     Completed Date:  1999-05-17     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  363-7     Citation Subset:  IM    
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Pennsylvania 19104-4399, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Central Nervous System / abnormalities
Congenital Abnormalities / etiology*,  genetics
Diabetes, Gestational / embryology,  genetics
Fetus / abnormalities
Heart Defects, Congenital / embryology,  genetics
Infant, Newborn
Penis / abnormalities*
Pregnancy in Diabetics / embryology*,  genetics
Sacrococcygeal Region / radiography
Scoliosis / genetics,  radiography
Urogenital Abnormalities*

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

Previous Document:  Biphasic effect of protein kinase C on rat renal cortical Na+, K+-ATPase.
Next Document:  Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity i...