Literature DB >> 9569262

Sirenomelia with an uncommon osseous fusion associated with a neural tube defect.

C Chen1, S L Shih, S W Jan, Y N Lin.   

Abstract

A sireniform infant presented with an uncommon osseous fusion of the lower limbs characterised by a fused femur, a partially fused tibia and sympus dipus with rudimentary digits and metatarsals. Associated abnormalities included sacral agenesis, a deformed pelvis, anorectal atresia, renal agenesis, cystic renal dysplasia, agenesis of the uterus and urinary bladder, ambiguous external genitalia, a single umbilical artery, a lumbosacral neural tube defect, and ventriculomegaly secondary to a Chiari II malformation. The pathogenesis of concurrent sirenomelia and neural tube defect is discussed.

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Year:  1998        PMID: 9569262     DOI: 10.1007/s002470050355

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  3 in total

1.  Sirenomelia.

Authors:  Antima Banerjee; M M A Faridi; Tushar K Banerjee; R N Mandal; Anju Aggarwal
Journal:  Indian J Pediatr       Date:  2003-07       Impact factor: 1.967

2.  Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations.

Authors:  Carlos Garrido-Allepuz; Domingo González-Lamuño; Maria A Ros
Journal:  PLoS One       Date:  2012-09-17       Impact factor: 3.240

Review 3.  A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations.

Authors:  Carlos Garrido-Allepuz; Endika Haro; Domingo González-Lamuño; María Luisa Martínez-Frías; Federica Bertocchini; Maria A Ros
Journal:  Dis Model Mech       Date:  2011-04-18       Impact factor: 5.758

  3 in total

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