Severe Pelvic Malformations in Caudal Regression Syndrome [PDF]
, 2016 info:eu-repo/semantics ...
Alves, F +4 more
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A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis [PDF]
, 2006 The authors describe a case of split notochord syndrome with a neuroenteric fistula in a newborn presenting with meningitis. Associated anomalies included agenesis of the corpus callosum, short colon, malrotation, epispadias, and an abnormally high ...
Lequin, M.H. (Maarten) +3 more
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Imperforate anus, multiple intestinal atresia and unilateral facial hypoplasia: A case series
Journal of Pediatric Surgery Case ReportsIntroduction: Imperforate anus and intestinal atresia are rare but well understood congenital disorders which affect the alimentary tract. Like intestinal atresia, facial hypoplasia is another congenital anomaly likely secondary to a vascular injury in ...
Joy Ayemoba +2 more
doaj +1 more source
, 2010 VACTERL association is a useful acronym for a condition characterised by the sporadic, non-random association of specific birth defects of multiple organ systems.We present one such case which had congenital abnormalities of renal,skeletal and cardiac ...
Rabah, SM, Salati, SA
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Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome [PDF]
, 2011 Background: Johanson-Blizzard syndrome (JBS; OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, facial dysmorphism with the characteristic nasal wing hypoplasia, multiple malformations, and ...
Addor, Marie-Claude +9 more
core +5 more sources
Imperforate anus with a rectovestibular fistula and pseudotail: a case report
Journal of Medical Case Reports, 2010 Introduction Human tails and pseudotails are rare sacrococcygeal lesions that are associated with a wide variety of anomalies and syndromes. Anorectal malformations are also relatively uncommon congenital defects that often occur in conjunction with ...
Jackson Gretchen P +2 more
doaj +1 more source
The primary cancer morphology of fallopian tube [PDF]
, 2017 Introduction. Despite significant progress in the study of malignant tumors, the primary cancer of the fallopian tubes (PCFT) is not fully studied yet.
Diachenko, O., Gyryavenko, N.
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TAY-SACHS DISEASE HETEROZYGOTE SELECTION [PDF]
, 1978 PIRACICABA UNIV,FAC MED,DEPT PEDIAT,CAMPINAS,BRAZILUNIV São Paulo,FAC MED,DEPT NEUROL,São Paulo,BRAZILWeb of ...
Diamet, A. J. +3 more
core +1 more source
Multimodality Renal Failure in a Patient with OEIS Complex
American Journal of Perinatology Reports, 2015 Omphalocele-exstrophy of the bladder-imperforate anus-spinal defect (OEIS) complex is a rare constellation of clinical abnormalities with wide phenotypic presentation.
Jonathan D. Santoro +3 more
doaj +1 more source
Aspermia and chronic testicular pain after imperforate anus correction. Cryopreservation of sperm cells extracted from whole orchiectomized testis: Case report [PDF]
, 2002 L Negri +3 more
openalex +1 more source