Lower Limb Defects and Effectiveness of Step Ladder Pattern in its Management in Present Time (2019)

Lower limb reconstruction following trauma, chronic infection and cancer ablation remains challenging. However various options are now possible for lower limb reconstruction due to the more details available today about perforators. In recent years, the management of lower extremity has evolved with numerous new techniques and innovations and thus extremities are salvaged that would have been amputated in the past. Today we are able to cover various complex defects with the help of free flaps due to more of research and knowledge in this field which was previously unknown. In developed countries, all these procedures can be used because of the availability of good resources, good manpower, and the latest technologies. But in developing countries like India in spite of being aware of many of this methods, there is a limitation on using all these methods due to the limitation of resources, economic burden, limited manpower, and surgery time. The concept of the reconstructive ladder was proposed to achieve wounds with adequate closure using a stepladder approach from simple to complex procedures. The reconstructive elevator requires creative thoughts and consideration of multiple variables to achieve the best form and function rather than a sequential climb up the ladder. However, this paradigm of thought does not eliminate the concept of the reconstructive ladder but replaces it with a ladder of wound closure that makes its mark in the field where a variety of advanced reconstructive procedures and techniques is not readily available. Therefore the model of step ladder pattern of soft tissue defect management remains the good option for developing countries like ours. Also, various lower limb defects from simple to complex can be covered with simple methods rather than going for the most complex ones first. It helps in fast management and low economic burden to society with a lesser hospital stay.

Síndrome de Adams-Oliver en dos casos clínicos / Adams-Oliver Syndrom in two clinical cases

Introducción: El síndrome de Adams-Oliver es una enfermedad heterogénea, caracterizada por aplasia cutis congénita y defecto transverso terminal de extremidades, con un amplio espectro fenotípico de malformaciones asociadas. Se han descrito diferentes modos de herencia en esta enfermedad. En el contexto cubano no se ha presentado ni publicado hasta el momento, casos de pacientes afectados por este síndrome Objetivo: Aportar evidencia que demuestra la presentación de casos con síndrome de Adams-Oliver. Presentación de casos: Se exponen dos casos de pacientes neonatales con síndrome de Adams-Oliver desde el punto de vista clínico, ambos de presentación esporádica. Además de la aplasia cutis congénita y el defecto transverso terminal de extremidades, uno de los pacientes exhibía cutis marmorata telangiectásica congénita y una anomalía de Ebstein. Conclusiones: Se exponen dos neonatos con síndrome de Adams-Oliver, ambos de presentación esporádica y uno de estos con una cardiopatía congénita (anomalía de Ebstein) no informada hasta ahora en la literatura(AU)

Introduction: The Adams-Oliver syndrome is a heterogenic disease characterized by aplasia cutis congenita and terminal transverse limb defects, with a wide phenotypic spectrum of associated malformations. Different kinds of inheritance of this disease have been described. In Cuba, any cases of patients suffering this syndrome have not been presented or published so far. Objective: To provide evidence demonstrating the presentation of cases with Adams-Oliver syndrome. Cases report: Two cases of neonatal patients with Adams-Oliver syndrome are presented from the clinical point of view, both of which are sporadic. In addition to the aplasia cutis congenita and the terminal transverse defect of the limbs, one of the patients presented congenital cutis marmorata telangiectatic and Ebstein anomaly. Conclusions: Two newborns cases with Adams-Oliver syndrome, both of sporadic presentation and one of these with a congenital heart disease (Ebstein anomaly) not previously reported in the literature are presented(AU)

Fenotipo grave en dos medio hermanas con síndrome de Adams Oliver / Severe phenotype in two half-sibs with Adams Oliver syndrome

El síndrome de Adams Oliver (AOS) es una entidad heterogénea con defecto transverso terminal de extremidades (TTLD) y aplasia cutis congénita (ACC) con un amplio espectro fenotípico. Se han descrito diferentes modos de herencia en esta enfermedad; los defectos más graves se han asociado a un patrón autosómico recesivo (AR). Objetivo. presentar a una familia con dos medio hermanas con un fenotipo grave de Adams Oliver, con una madre sana. Reporte del caso: una mujer de 27 años de edad fue referida al Departamento de Genética. Su hija anterior presentó acránea, anillos de constricción y defectos transversos terminales de extremidades. Su hija actual presentaba encefalocele occipital, defecto amplio en huesos del cráneo, aplasia cutis congénita, defecto terminal transverso de extremidades y labio y paladar hendido bilateral. Sugerimos que algunos casos con fenotipo grave del síndrome de Adams Oliver pueden deberse a herencia autosómico dominante con penetrancia incompleta o a la presencia de mosaicismo gonadal.

Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. Objective. To present a family with two half siblings with a severe phenotype of Adams Oliver syndrome in which the mother was healthy. Case report: A 27 year-old woman was referred to the Genetics Department. Her previous girl presented acrania, constriction rings and terminal transverse limb defects. The present girl had occipital encephalocele, large scalp defects, aplasia cutis congenita, terminal transverse limb defects and bilateral cleft lip and palate. Autosomal dominant inheritance with reduced penetrance or gonadal mosaicism has to be considered in Adams Oliver syndrome with severe intracranial anomalies.

A Case of Limb Reduction Defect after Chorionic Villus Sampling at 9 Gestational Weeks / 대한산부인과학회잡지

Since it has been proposed that chorionic villus sampling could be an etiology of limb reduction defect, the relation between limb defect and chorionic villus sampling remains controversial. We experienced a case of limb reduction defect after chorionic villus sampling at 9 gestational weeks and report the case with brief review of literature.