Limb body wall defect associated with rare cardiac anomalies

Arıcı, Dilek Sema; Perçin, Ferda Emriye; Ozer, H T; M, Aslan; Çetin, Ali

doi:10.1111/j.1328-0867.2004.01846.x

Cited by 5 publications

(7 citation statements)

References 11 publications

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“…No reports presenting similar features of our patient with a complex heart defect (patient 2) were found in the literature. Van Allen et al () and Arici et al () reported carriers of truncus arteriosus and ventricular septal defect.…”

Section: Discussionmentioning

confidence: 99%

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Limb‐body wall defect: Experience of a reference service of fetal medicine from Southern Brazil

Gazolla¹,

Cunha²,

Telles³

et al. 2014

Birth Defects Research

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The results disclosed that complementary exams, such as MRI and echocardiography, are important to better define the observed defects. Some of them, such as congenital heart defects, may be more common than previously reported. This definition is essential for the proper management of the pregnancy and genetic counseling of the family. The birth of these children must be planned with caution and for the prognosis a long survival possibility, despite unlikely and rare, must be considered.

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Section: Discussionmentioning

confidence: 99%

“…Congenital heart defects are considered rare among patients with LBWD (Arici et al, ). This may be identified through ultrasound in utero (Kato, ).…”

Section: Discussionmentioning

confidence: 99%

Limb‐body wall defect: Experience of a reference service of fetal medicine from Southern Brazil

Gazolla¹,

Cunha²,

Telles³

et al. 2014

Birth Defects Research

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“…Below we cite patients that fit our criteria for LBWC who also had key features of EC and URSMS, including imperforate anus/anal atresia; absent perineal openings; bilateral agenesis, dysgenesis, or hypoplastic kidneys; absent, ambiguous, or abnormal external genitalia; exstrophy of the cloaca/bladder; and meningomyelocele or meningocele. Imperforate anus/anal atresia was reported in Cases 6, 13, and 14 by Pagon et al [1979]; in Cases H5400, H7643, and H7785 by Van Allen et al [1987]; in Case 4 by Hartwig et al [1989]; by Palacios and Rodriguez [1990]; in Cases 1–8 by Russo et al [1993]; in Cases 4 and 5 by Craven et al [1997]; by Chen et al [2000]; by Managoli et al [2003]; by Arici et al [2004]; and by Chen et al [2005]. Bilateral agenesis, dysgenesis, or hypoplastic kidneys were reported in Cases H5400 and H6730 by Van Allen et al [1987], and by Managoli et al [2003].…”

Section: Discussionmentioning

confidence: 99%

“…Bilateral agenesis, dysgenesis, or hypoplastic kidneys were reported in Cases H5400 and H6730 by Van Allen et al [1987], and by Managoli et al [2003]. Absent, ambiguous, or abnormal external genitalia were reported in Cases 6, 10, and 11 by Pagon et al [1979]; in Cases H5400, H7643, H7742, H7785, and 105SUL by Van Allen et al [1987]; in Cases 1–8 by Russo et al [1993]; in Cases 1 and 5 by Craven et al [1997]; by Chen et al [2000]; by Managoli et al [2003]; by Arici et al [2004]; and by Chen et al [2005]. Exstrophy of the cloaca/bladder was reported in Case H5400 by Van Allen et al [1987]; by Palacios and Rodriguez [1990]; in Cases 2–4 by Craven et al [1997]; and by Chen et al [2000].…”

Section: Discussionmentioning

confidence: 99%

On the spectrum of limb‐body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence

Heyroth-Griffis

Weaver

Faught

et al. 2007

American J of Med Genetics Pt A

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The limb-body wall complex (LBWC) is characterized by abdominal wall and limb defects, exstrophy of the cloaca (EC) by lack of closure of the lower abdominal wall and lack of cloacal septation, and the urorectal septum malformation sequence (URSMS) by absent perineal and anal openings, ambiguous genitalia, colonic, and renal anomalies. We report here on three fetuses whom have overlapping features of these disorders. Also we have reviewed the literature for cases with overlapping features of two or three of the above conditions. From the description of the cases reported on here and those in the literature, we propose that the overlap of features found among LBWC, EC, and URSMS represent a continuous spectrum of abnormalities, rather than three separate conditions. As such, we suggest that all three conditions may share a common etiology or pathogenetic mechanism.

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“…Además, hay anormalidades como cordón umbilical corto o cordón bivascular 15 hasta en el 90% de los casos, dado que la formación de la pared corporal normal se encuentra fuertemente asociada con la formación del cordón umbilical. [22][23][24] Gilbert-Barness y colegas dividieron los casos de cordón corto en grupos etiológicos: 25 grupo I: cordón corto con bandas amnióticas, secuencia ADAM; 26,27 grupo II: cordón corto menor de 10 cm, con defecto de la pared abdominal, cuerpo fetal "inclinado" llamado pleurosomo-schisi (apertura lateral del tronco) 28 y ausencia de extremidad; grupo III: cordón corto con severo defecto de cierre de la línea media, con onfalocele, ectopia cordis, extrofia vesical, labio y/o paladar hendido y defectos del tubo neural; grupo IV: cordón corto en gestación gemelar anormal; grupo V: cordón corto con desorden neuromuscular, artrogriposis y defectos de las extremidades; grupo VI: cordón corto con defecto de la pared abdominal y onfalocele. Con base en estos grupos etiológicos puede decirse que el caso de LBWC reportado hace parte del grupo II.…”

Section: Discussionunclassified

Complejo Limb-Body Wall en el Hospital Universitario San Ignacio en Bogotá (Colombia). Reporte de caso y revisión de la literatura

Olaya

Gaviria

2011

Rev. Colomb. Obstet. Ginecol.

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Introducción: las alteraciones del cordón umbilical están asociadas con diversas complicaciones de la gestación a corto y a largo plazo, algunas con pocas probabilidades de sobrevida y relacionadas con lesiones fetales múltiples. El complejo Limb-Body Wall (LBWC), compuesto por defectos de la pared corporal lateral y anomalías por acortamiento de miembros, es una de tales complicaciones, cuyas aún discutidas etiologías, pobre pronóstico y posibilidad de recurrencia hacen que cobre importancia en el diagnóstico ecográfico, la atención neonatal y el abordaje de la autopsia.Objetivos: reportar un caso de LBWC y revisar la literatura publicada sobre su etiología, características clínicas y diagnóstico, en el contexto de las complicaciones asociadas con las alteraciones del cordón umbilical.Materiales y métodos: se presenta el caso clínico de una recién nacida de primer embarazo de madre adolescente quien consultó a una entidad de nivel referencia y alta complejidad, recién nacida que falleció a los pocos minutos de nacer; presentaba defecto de la pared abdominal, escoliosis y esbozo de miembro superior izquierdo, asociado con cordón umbilical de 6 cm. Se realizó una revisión de la literatura publicada en las bases de datos Medline vía PubMed, Ovid e Hinari.Conclusión: el LBWC se asocia con un índice importante de morbimortalidad y con la expresión de un cordón excesivamente corto; por tanto, cobra gran relevancia hacer un diagnóstico oportuno y brindar asesoría genética adecuada a las familias.

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Limb body wall defect associated with rare cardiac anomalies

Cited by 5 publications

References 11 publications

Limb‐body wall defect: Experience of a reference service of fetal medicine from Southern Brazil

Limb‐body wall defect: Experience of a reference service of fetal medicine from Southern Brazil

On the spectrum of limb‐body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence

Complejo Limb-Body Wall en el Hospital Universitario San Ignacio en Bogotá (Colombia). Reporte de caso y revisión de la literatura

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