Oblicuidad pélvica o contractura congénita en abducción de la cadera: una entidad poco conocida / Congenital pelvic obliquity or congenital hip’s abduction contracture: a little known entity

La oblicuidad pélvica congénita es una patología frecuente en el lactante y poco conocida por los pediatras. Se presentan cuatro casos de oblicuidad pélvica simple en lactantes mujeres. Se describen los hallazgos clínicos y radiológicos en el momento del diagnóstico, la actitud terapéutica y la evolución de cada uno de ellos. Los pediatras de Atención Primaria debemos estar atentos a los antecedentes, signos acompañantes y al diagnóstico de esta entidad, así como tener formación en la exploración de la cadera para detectar clínicamente una inestabilidad, preferentemente en la cadera aducta (opuesta a la contracturada). Es importante la interrelación entre Pediatría, Radiología Infantil, Traumatología Infantil y Rehabilitación (AU)

Congenital pelvic obliquity is frequent, although pediatricians are not used to diagnose it. We report four female infants with simple pelvic obliquity. We describe clinical and radiologic findings, their treatment and outcome. Primary care pediatricians must be alert looking for pelvic obliquity in infants. We need to improve our abilities in hip exploration, to detect instability in the adduct hip (in the opposite of the contractured hip). Is very important to work together: pediatricians, radiologist, orthopedist and rehabilitation physician (AU)

Management of hip contractures and dislocations in arthrogryposis.

Arthrogryposis represents a group of heterogeneous disorders, characterized by contractures of multiple joints at birth. Involvement of the hip is very common (55-90% of patients) ranging from soft tissue contractures to subluxation and dislocation. Isolated contracture of the hip can usually be managed conservatively: compensative mechanisms and contractures of other joints should be evaluated before planning surgery. For unilateral dislocations, open reduction is indicated to provide a level pelvis, even though the risk of stiffness, avascular necrosis and redislocation is significant. Indications for surgical reduction of bilateral dislocations are more controversial: an adequate evaluation of ambulatory potential of the child (muscular weakness, involvement of upper extremities, etc.) and of stiffness of the hips is suggested. An extensive and long-lasting programme of bracing, physiotherapy and multiple surgery may lead to some measure of functional ambulation in most cases, but high need for surgery and considerable risk of complications must be considered. This paper summarizes problems and principles of treatment for hip contractures and dislocations in arthrogryposis and provides a review of the current literature.

Aracnodactilia contractural congénita / Congenital contractural arachnodactyly

La aracnodactilia contractural congénita (ACC) es un trastorno del tejido conectivo debido a una mutación autosómica dominante. La persona afectada de ACC presenta múltiples expresiones clínicas, incluidas las cardiacas y, principalmente, las musculoesqueléticas. Los progresos en el control de la gestación y la accesibilidad a técnicas de reproducción asistida llevan, cada vez más, a tener que atender situaciones como el caso clínico que se presenta: una gestación gemelar bicorial biamniótica obtenida por técnica de fertilización in vitro en una mujer afectada de dicha enfermedad. Los retos diagnósticos, las alternativas terapéuticas, el pronóstico materno y neonatal y las repercusiones sociales y éticas de estos casos son temas para la reflexión(AU)

Congenital contractural arachnodactyly (CCA) is a connective tissue disorder caused by an autosomal dominant mutation. Affected individuals show multiple involvement, including cardiac and, mainly, musculoskeletal abnormalities. Because of advances in pregnancy management and access to assisted reproduction techniques, situations such as that reported in the present article will become more frequent: we describe a dichorionic diamniotic twin gestation obtained by in vitro fertilization in a woman with CCA. The diagnostic challenges, therapeutic alternatives, maternal and neonatal outcomes, and the social and ethical repercussions of these cases are discussed(AU)

Olivo-ponto-cerebellar atrophy with muscular atrophy, joint contractures and pulmonary hypoplasia of prenatal onset.

The clinical and pathological features of a female neonate with congenital joint contractures and pulmonary hypoplasia are described. Neuropathological examination revealed a widespread neuronal degeneration with a predominantly olivo-ponto-cerebellar distribution and muscle pathology consistent with neurogenic atrophy. This is the first reported case of congenital joint contractures and pulmonary hypoplasia with pathologically documented olivo-ponto-cerebellar degeneration. The observation further illustrates that the so-called fetal akinesia sequence or Pena-Shokeir I syndrome is an aetiologically non-specific symptom complex that can be caused by a number of underlying mechanisms.