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    
Abstract/OtherAbstract:
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.
Authors:
K W Gripp; M Barr; G Anadiotis; D M McDonald-McGinn; S A Zderic; E H Zackai
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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    
Affiliation:
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Pennsylvania 19104-4399, USA.
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MeSH Terms
Descriptor/Qualifier:
Central Nervous System / abnormalities
Congenital Abnormalities / etiology*,  genetics
Diabetes, Gestational / embryology,  genetics
Female
Fetus / abnormalities
Heart Defects, Congenital / embryology,  genetics
Humans
Infant, Newborn
Male
Penis / abnormalities*
Pregnancy
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


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