RESUMEN
Amniotic band syndrome is a sporadic condition that may result in constriction bands, amputation and multiple craniofacial, visceral and body wall defects. It occurs in 1/1,200 to 1/15,000 live births. Most cases present with multiple congenital anomalies that are incompatible with life. A small group of fetuses shows isolated limb constrictions that may cause severe limb dysfunction or limb amputation if left untreated. Successful in utero surgical lyses of constriction rings have been reported. We report a case of constriction amniotic bands involving both legs and compromising blood flow to the distal extremity. The constriction ring was successfully released by a minimally invasive endoscopic surgical technique avoiding severe limb dysfunction or foot amputation.
Asunto(s)
Síndrome de Bandas Amnióticas/cirugía , Constricción Patológica/cirugía , Enfermedades Fetales/cirugía , Laparoscopía , Pierna/embriología , Síndrome de Bandas Amnióticas/diagnóstico por imagen , Femenino , Edad Gestacional , Humanos , Recién Nacido , Pierna/irrigación sanguínea , Embarazo , Resultado del Embarazo , UltrasonografíaRESUMEN
Three cutaneous manifestations are characteristic of Bart syndrome: congenital localized absence of skin (CLAS), mucocutaneous blistering, and nail abnormalities. Six cases of Bart syndrome are herein reported. Localized absence of skin is present at birth, particularly on the anterior aspects of the lower extremities and dorsa of the feet. Physical trauma in utero has been proposed as a mechanism to explain the denuded areas on the limbs. The recurrent, highly similar pattern of the congenital defect in regard to location and clinical appearance in our patients and in most of the reported cases strongly suggests that trauma is too simplistic an explanation. Because of the observed bilateral and symmetric distribution of denuded areas in an S-shaped broad band, their sharply demarcated borders, the involvement of the toe webs, and the frequent similar involvement of the soles, we suggest that congenital localized absence of skin in Bart syndrome may follow the lines of Blaschko.
Asunto(s)
Anomalías Cutáneas/patología , Vesícula/patología , Femenino , Humanos , Recién Nacido , Pierna/embriología , Masculino , Uñas Malformadas/patología , Anomalías Cutáneas/embriología , SíndromeRESUMEN
Fields are those parts of the embryo in which the processes of development of complex structure appropriate to those parts are controlled and coordinated in a spatially ordered, temporally synchronized, and epimorphically hierarchical manner. Disturbances of field development may be corrected or may lead to anomalies of abnormal or incomplete differentiation. Powerful evidence for the existence of developmental fields comes from the observation of identical malformations resulting from two or more different causes; this identifies groups of embryonic structures that respond as a single developmental unit. Early action of a dysmorphogenetic cause in a field may lead to an extensive defect (e.g., cyclopic holoprosencephaly), later action to a lesser defect (e.g., single upper central incisor as mildest expression of autosomal-dominant holoprosencephaly). Disturbances of "long-distance" inductive relationships between primordia may simulate the presence of a malformation syndrome (e.g., renal and limb anomalies as disturbance of the acrorenal developmental field). The biology of developmental fields is complex but accessible through knowledge of comparative anatomy and embryology, phylogeny, experimental embryology, developmental genetics, and teratology. It challenges the clinician to a deeper understanding of development in order to give better care to the malformed and their families.