Asphyxiating thoracic dystrophy: a report of 3 cases

Abstract

ResumoObjetivo: Alertar os pediatras para uma síndrome cuja principal característica é a anomalia da caixa torácica que evolui, geralmente, para insuficiência respiratória e óbito nos primeiros dois anos de vida.Métodos: Relato de três casos de pacientes com características clínicas e radiológicas compatíveis com distrofia torácica asfixiante (síndrome de Jeune): caixa torácica pequena, estreita e desenvolvimento anormal de costelas. Faz-se a seguir uma breve revisão da literatura.Resultados: Os três pacientes acompanhados encontram-se em idade pré-escolar, contrapondo-se à maioria dos casos da literatura, cujas evoluções são geralmente insatisfatórias. Até o momento não apresentaram complicações pulmonares graves ou insuficiência respiratória.Conclusões: Embora salientando a raridade da síndrome, esta deve ser suspeitada no diagnóstico diferencial das anomalias da caixa torácica. Ressalta-se o grau variável de acometimento pulmonar e evolução da doença, embora dados de literatura revelem, em sua maioria, mau prognóstico.J. pediatr. (Rio J.). 1998; 74(4):333-337-: distrofia torácica asfixiante, síndrome de Jeune, anomalias da caixa torácica. AbstractObjective: To drive pediatrician's attention to a syndrome wwich has as its typical clinical presentation a thoracic cage abnormality which evolves to respiratory distress and death during the first two years of life.Methods: We describe three cases of patients with clinical and radiographic findings characteristic of asphyxiating thoracic dystrophy (Jeune's Syndrome): short and narrow thoracic cage and abnormal development of the ribs. A brief review of the literature on the subject is also included.Results: The three patients are older then two years of age. They did not present life threatening pulmonary complication nor respiratory distress, in contrast to most of the cases reported in the literature.Conclusions: Even though the number of occurrences of this syndrome is quite low, it must be consider when conducting a differential diagnostic related to thoracic cage abnormalities. It is important to emphasize the degree of variability of the pulmonary lesions and the progress of the disease. However, most articles on the subject point to a grim outcome. J. pediatr. (Rio J.). 1998; 74(4):333-337-: asphyxiating thoracic dystrophy, Jeune's syndrome, thoracic cage abnormalities.

Chest circumference in full-term newborns: how can it be predicted?

“…In these cases, HC or weight is not enough. This is because they are often associated with a small, narrow, elongated rib cage typical of abnormal rib development [32]. In this sense, the usefulness of detecting pathological CC as a spy of the chest malformation and/or as a dysmorphic feature may be important, if associated with clinical signs or in addition to other dysmorphic elements.…”

Oral rehabilitation in a patient with Jeune syndrome presenting with multiple teeth agenesis

“…Most patients with JS die in the first 2 years of life. In a series of 13 cases of JS, 9 only one case was of an 11‐year‐old child. Furthermore, only one adult with JS, aged 32 years, has been reported 10 .…”