Síndrome de Bartsocas-Papas y secuencia de bridas amnióticas: Semejanzas clínicas sugieren un factor etiopatogénico común / Bartsocas-Papas syndrome and amniotic bands sequence: Clinical similarities suggest a common etiopathogenic factor

Introducción: el síndrome de Bartsocas-Papas (SBP) es una entidad letal causada por una mutación homocigota del gen RIPK4, el cual, formando parte de una compleja red molecular, está involucrado en la diferenciación del queratinocito. Las principales manifestaciones del síndrome, parcialmente compartidas por otras displasias ectodérmicas monogénicas son: pterigium en miembros inferiores, fisuras faciales, defectos de reducción distal de miembros y apéndices cutáneos. Por otro lado, la secuencia de bridas amnióticas (SBA), de etiopatogenia desconocida, se caracteriza por un espectro variable de anomalías consideradas disruptivas, incluyendo fisuras faciales y defectos de reducción de miembros. Objetivo: describir los hallazgos clínicos y anatomopatológicos de un paciente con SBP y de otro con SBA, remarcando sus semejanzas. Casos clínicos: 1) Recién nacida con fisura facial, pterigium poplíteo y crural, reducción de dedos y ortejos, y apéndices cutáneos. Placenta con zonas desprovistas de epitelio amniótico. 2) Feto femenino de 27 semanas, fisura facial atípica, reducción distal de miembros, pterigium poplíteo, defecto de cierre de pared tóracoabdominal y polo cefálico, apéndices cutáneos y presencia de bridas amnióticas. Placenta y cordón umbilical con extensas zonas de desprendimiento del epitelio amniótico. Conclusiones: algunos hallazgos similares en el SBP y la SBA permitirían especular acerca de la existencia de un factor intrínseco, relacionado al desarrollo de la piel, y común a ambas entidades.

Introduction: Bartsocas-Papas syndrome (BPS) is a lethal condition caused by a homozygous mutation of the RIPK4 gene, which, being part of a complex molecular network, is involved in keratinocyte differentiation while. The main clinical manifestations are webbing of lower limbs, facial clefts, distal limb reduction defects, and skin tags, and some of these are shared with other monogenic ectodermal dysplasia syndromes. Similarly, amniotic bands sequence (ABS), a condition of unknown etiopathogenesis, is characterized by a variable spectrum of anomalies considered as disruptive, such as facial clefts and limb reduction defects. Objective: to describe clinical and autopsy findings of a patient with BPS and of a fetus with ABS, emphasizing on their similarities. Case reports: 1. Female liveborn with atypical facial clefts, popliteal and crural webbing, distal reduction defects of hands and feet, and multiple skin tags. The placenta showed regions lacking amniotic epithelium. 2. Female fetus of 27 gestational weeks, atypical facial clefts, distal limb reduction defects, popliteal webbing, thoracoabdominal and cephalic closure defects, skin tags, and amniotic bands. Placenta and umbilical cord showed broad regions lacking amniotic epithelium attachment. Conclusions: the observation of a number of findings with remarkable similarities between BPS and ABS allows considering the existence of an intrinsic factor, involved in skin development which is common to both conditions.

Apert syndrome with omphalocele: a case report.

Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele.