Abstract

RAMOS MEJIA, Rosario; DEL PINO, Mariana; OBREGON, María G.  and  FANO, Virginia. Clinical, radiological and auxologic long-term evolution of 8 children with asphyxiating thoracic dysplasia. Arch. argent. pediatr. [online]. 2015, vol.113, n.6, pp.e357-e362. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2015.e357.

Asphyxiating Thoracic Dysplasia is an uncommon condition with multiple organ afectation and high neonatal mortality. It presents with short stature, short extremities, narrow thorax. With growth, there is respiratory improvement, but emergence of renal, hepatic, pancreatic and/or retinal impairment. Objective: to describe the long-term evolution of 8 patients of a pediatric hospital. Methods: we retrospectively evaluated age at diagnosis, sex, anthropometric variables, complications and radiology. Results: male/female 6/2. Median age at diagnosis: 2.54 years. Evolution: 8/8 respiratory compromise, 3/8 kidney, liver 2/8, 1/8 ophthalmologic, cardiac 1/8. Median height at diagnosis -1.76 DS, normal postnatal growth and body proportions. Radiology: 8/8 narrow chest and brachyphalangia in hands. 5/8 acetabular abnormalities. Discussion: for surveillance it is recommended to monitor renal, liver and eye function. The pediatrician should suspect this entity in a newborn with narrow thorax and respiratory distress.

Keywords : Growth; Body height; Asphyxiating thoracic dysplasia; Jeune syndrome.

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