ABSTRACT
INTRODUCTION: Cornelia de Lange syndrome is a rare polimalformative association that shows an expresivity of unknown etiology being most cases sporadic. The diagnosis is clinical. CASE REPORTS: Two female newborns without remarkable antecedents affected of intrauterine growth retardation were born by cesarean section due to risk of perinatal asphyxia. Both cases had a harmonic hypotrophy and a very similar clinical phenotype, especially the craniofacial anomalies, with typical facial features and limb alterations. Besides, the evolution confirms the diagnosis because in both cases the delay of somatic development and microcephaly, as well as moderate-severe psychomotor delay and behavior alterations were present. Likewise, both cases have developed typical medical complications of the condition. The complementary study showed in both patients an important dysfunction of the auditory ways and a atrial septal defect. They were soon included in sensory and motor program of rehabilitation. CONCLUSION: We present two cases of Cornelia de Lange syndrome of neonatal diagnosis that we consider of interest due to the importance of an early recognition of the clinical condition for the family advice and the medical aid and for an appropriate development.
Subject(s)
De Lange Syndrome , De Lange Syndrome/diagnosis , De Lange Syndrome/pathology , De Lange Syndrome/physiopathology , De Lange Syndrome/rehabilitation , Female , Humans , Infant , Infant, Newborn , Male , Pregnancy , Treatment OutcomeABSTRACT
Introducción. El síndrome de Cornelia de Lange (SCL) consiste en un cuadro polimalformativo poco frecuente que presenta una amplia expresividad, de etiología todavía desconocida; la mayoría de los casos son esporádicos, y su diagnóstico es fundamentalmente clínico. Casos clínicos. Se trata de dos mujeres recién nacidas, sin antecedentes familiares de interés, con retraso de crecimiento intrauterino, nacidas por cesárea por pérdida del bienestar fetal. Ambas presentaban una hipotrofia armónica y un fenotipo clínico muy similar, en el que resaltaban las anomalías craneofaciales y facies características y las alteraciones de las extremidades. Además, su evolución confirma el diagnóstico, al comprobarse en ambas el retraso del desarrollo somático y microcefalia, así como retraso psicomotor moderado-grave y alteraciones del comportamiento. Asimismo, las dos han desarrollado complicaciones médicas características de la afección. El estudio complementario puso de manifiesto en ambas pacientes una disfunción marcada de las vías auditivas y una comunicación interauricular tipo ostium secundum. Se incluyeron precozmente en un programa de rehabilitación motora y sensorial. Conclusión. Se trata de dos observaciones de SCL, con diagnóstico neonatal, que consideramos de interés dada la importancia que tiene para el clínico el reconocimiento temprano de la afección, para el asesoramiento familiar y la ayuda médica y de desarrollo apropiada (AU)
Introduction. Cornelia de Lange syndrome is a rare polimalformative association that shows an expresivity of unknown etiology being most cases sporadic. The diagnosis is clinical. Case reports. Two female newborns without remarkable antecedents affected of intrauterine growth retardation were born by cesarean section due to risk of perinatal asphyxia. Both cases had a harmonic hypotrophy and a very similar clinical phenotype, especially the craniofacial anomalies, with typical facial features and limb alterations. Besides, the evolution confirms the diagnosis because in both cases the delay of somatic development and microcephaly, as well as moderate-severe psychomotor delay and behavior alterations were present. Likewise, both cases have developed typical medical complications of the condition. The complementary study showed in both patients an important dysfunction of the auditory ways and a atrial septal defect. They were soon included in sensory and motor program of rehabilitation. Conclusion. We present two cases of Cornelia de Lange syndrome of neonatal diagnosis that we consider of interest due to the importance of an early recognition of the clinical condition for the family advice and the medical aid and for an appropriate development (AU)
