A pattern of craniofacial and limb defects secondary to aberrant tissue bands

Jones, Kenneth Lyons; Smith, David W.; Hall, Bryan D.; Hall, Judith G.; Ebbin, Allan J.; Massoud, Hossein; Golbus, Mitchell S.

doi:10.1016/s0022-3476(74)80559-7

Cited by 115 publications

(36 citation statements)

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“…12 Se trata de un cuadro heterogéneo en cuanto a sus posibles causas. 5 Las anomalías principales encontradas en la SBA son la amputación de extremidades o dedos por bandas de constricción, linfedema, seudosindactilia y acrosindactilia [2][3][4] (cutánea si involucra piel o compleja cuando involucra hueso; completa si involucra uñas e incompleta si no lo hace), 14 características presentes en la mayoría de los casos. 9 Sin embargo, el 77% de los pacientes presenta además alteraciones craneofaciales, torácicas, de columna, abdominales y genitales.…”

Section: Discussionunclassified

“…9 Sin embargo, el 77% de los pacientes presenta además alteraciones craneofaciales, torácicas, de columna, abdominales y genitales. [2][3][4] Se han comunicado casos con manifestaciones clínicas atípicas, por lo que la expresión clínica es muy variable en la SBA. 2,3 El diagnóstico diferencial incluye el síndrome de Adams-Oliver, que es una raro cuadro genéti-co con un tipo de herencia tanto autosómico dominante como recesivo; los criterios diagnósticos principales son defectos terminales transversos de extremidades y aplasia cutis congénita.…”

Section: Discussionunclassified

“…[1][2][3][4] Se la denomina también complejo de ADAM (del inglés, amniotic deformity, adhesions, mutilations); 3 con una prevalencia de 1/11 200 nacidos vivos en América latina. 5 Su etiología aún se desconoce y la mayoría de los casos comunicados son aislados.…”

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Secuencia de bridas amnióticas y atresia bilateral de coanas: reporte de un caso

et al. 2011

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RESUMENLa secuencia de bridas amnióticas (SBA) es un grupo de malformaciones de tipo disruptivo que afecta principalmente las extremidades; clínicamente, se observan anillos de constricción y linfedema en dedos, brazos y piernas; pseudosindactilias y acrosindactilias; además, existe amputación congénita de las extremidades por tumefacción distal; en algunos pacientes se han comunicado, con menor frecuencia, alteraciones craneofaciales y del tronco. La etiología es aún desconocida y la mayoría de los casos son aislados. En este informe presentamos el caso de un paciente masculino, de 45 días de nacido, con diagnóstico de SBA y atresia bilateral de coanas como hallazgo adjunto; se revisan las posibles causas del SBA y las alteraciones asociadas. Palabras clave: secuencia de bridas amnióticas, atresia bilateral de coanas, disrupción de extremidades, craneofaciales y del tronco. SUMMARYAmniotic band sequence (ABS) is a group malformation that mainly affects limbs; clinically, constriction rings and lymphedema of the fingers, arms and legs, acrosyndactyly and pseudosyndactyly are observed; also there is congenital amputation of limbs due to distal swelling. Less frequently, craniofacial and trunk involvement are reported in some patients. Etiology is still unknow and most cases are isolated. In this report we present the case of a 45-day-old male with diagnosis of SBA and bilateral choanal atresia as attached finding, and review possible causes of SBA and associated alterations.

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Secuencia de bridas amnióticas y atresia bilateral de coanas: reporte de un caso

et al. 2011

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“…This entity, termed the amniotic band disruption complex (ABDC) [4], has been observed in 1 per 2,500 to 1 per 10,000 live births [7] and has been reported at autopsy in 7-14% of stillbirths [11]. Because as many as one third of these children will have severe craniofacial anomalies [6], it is essential that pediatric neurosurgeons are familiar with the causes and effects of ABDC.…”

Section: Discussionmentioning

confidence: 99%

“…Although the extremities are most frequently involved, approximately one third of affected children will have cranofacial anomalies [6] including cleft lip, facial clefts, scalp defects, encephalocele, anencephaly, holoprosencephaly, and hydrocephalus [5,6,9].…”

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Pediatric Neurosurgical Implications of the Amniotic Band Disruption Complex

Hudgins¹,

Edwards²,

Ousterhout³

et al. 1985

Pediatr Neurosurg

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Defects caused by the amniotic band disruption complex (ABDC) may vary from simple malformations caused by digital constriction to major scalp, craniofacial, and visceral malformations. ABDC may cause 7–14% of stillbirths. The etiology is unclear, but the most commonly accepted mechanism involves rupture of the amnion followed by fetal malformation, deformation, and compression. This mechanism does not adequately explain all anomalies such as hydrocephalus and holoprosencephaly that are seen in the ABDC. The use of prenatal ultrasound has allowed the diagnosis of the ABDC in utero. Since 1980, four children with the ABDC who required neurosurgical intervention were seen at the University of California, San Francisco; the presentation and subsequent surgical treatment of 2 of these children are discussed. A combined craniofacial team approach to the management of these children can maximize reconstructive and neurologic outcome.

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