Résumé
O artigo tem por objetivo reunir as principais informações sobre uma patologia rara e pouco conhecida, a Síndrome de Pena-Shoker, com o intuito de despertar o interesse para novos estudos a respeito do desenvolvimento neuro-psico-motor, e de auxiliar na detecção e intervenção precoce desses lactentes.
The main objective of this paper is to gather information about a rare and seldom studied disease, the Pena-Shokeir syndrome, focusing on developing and providing more information about this grave disease and on increasing the scientific interest in the neuro-pshyco-motor development, so that detection and early intervention for these children can be faster.
Sujets)
Humains , Malformations , Évolution de la maladie , Dégénérescence nerveuse , SyndromeRésumé
Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore, final diagnosis should be based on chromosome study. The case that we experienced had typical Pena-Shokeir phenotype, but chromosomal study show 47, XY, +18.