Literature DB >> 16801393

Multidisciplinary surgical approach to a surviving infant with sirenomelia.

Antonio Messineo1, Marco Innocenti, Riccardo Gelli, Simone Pancani, Roberto Lo Piccolo, Alessandra Martin.   

Abstract

Sirenomelia is an extremely complex and rare malformation with different degrees of lower-extremities fusion associated with gastrointestinal, musculoskeletal, vascular, cardiopulmonary, and central nervous system malformations. In the English literature, there are only 5 reports of infants surviving with this condition. In our case, a 2540-g female infant was born with normal vital signs, no facial dysmorphism, and a complete soft tissue fusion of the lower limbs, from perineum to ankles. Radiologic examinations revealed an intestinal atresia and a single pelvic kidney, with a unique ureter, 2 femurs, 2 tibias, 2 fibulas, and 2 feet (simpus dipus). At 7 months of age, a multidisciplinary surgical team achieved complete separation of the lower limbs, with independent vascular and nerve supplies. At the time of this writing, the infant was 28 months old and had a regular growth curve. Many future reconstructive surgeries have been planned to achieve an acceptable quality of life for this infant.

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Year:  2006        PMID: 16801393     DOI: 10.1542/peds.2005-3001

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  9 in total

Review 1.  Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.

Authors:  Iêda M Orioli; Emmanuelle Amar; Jazmin Arteaga-Vazquez; Marian K Bakker; Sebastiano Bianca; Lorenzo D Botto; Maurizio Clementi; Adolfo Correa; Melinda Csaky-Szunyogh; Emanuele Leoncini; Zhu Li; Jorge S López-Camelo; R Brian Lowry; Lisa Marengo; María-Luisa Martínez-Frías; Pierpaolo Mastroiacovo; Margery Morgan; Anna Pierini; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Eduardo E Castilla
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-14       Impact factor: 3.908

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

4.  Sirenomelia: a rare presentation.

Authors:  K Ramesh Reddy; S Srinivas; Shiva Kumar; Surweshwar Reddy; Hari Prasad; G M Irfan
Journal:  J Neonatal Surg       Date:  2012-01-01

5.  What is your diagnosis?

Authors:  İlknur Adanır; Ayşe Filiz Gökmen Karasu; Banu Dane
Journal:  J Turk Ger Gynecol Assoc       Date:  2017-12-15

6.  Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report.

Authors:  Fatemah Al Hadhoud; Abeer H Kamal; Abdulmohsen Al Anjari; Michael Fe Diejomaoh
Journal:  Int Med Case Rep J       Date:  2017-09-21

7.  A Rare Case Report of Sirenomelia Following Intracytoplasmic Sperm Injection Embryo Transfer.

Authors:  Kamala Selvaraj; Priya Selvaraj; S Sivapriya; Vijaya Annigeri; V Suganthi
Journal:  J Hum Reprod Sci       Date:  2020-04-07

8.  Successful Expectant Management of the Anomalous Fetus with Sirenomelia in Twin Pregnancy: A Case Report and Literature Review.

Authors:  Temesgen Tilahun; Dawit Desta
Journal:  Int Med Case Rep J       Date:  2021-04-09

9.  Sirenomelia in a Cameroonian woman: a case report and review of the literature.

Authors:  Frederick Li Morfaw; Philip N Nana
Journal:  F1000Res       Date:  2012-07-26
  9 in total

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