RESUMEN
Major improvements in perinatal care have led to increased survival after premature birth and have allowed the survival of very young and immature newborns. Bronchopulmonary dysplasia is a serious complication of prematurity and has become a developmental lung disorder, hardly preventable due to its multiple causes. The treatment serves to maintain a normal growth, reduce the respiratory workload, and prevent further complications, by trying not to interfer with postnatal lung development. Bronchopulmonary dysplasia may be associated with bronchial hyperreactivity and an obstructive bronchial pattern that may lead to frequent hospital admissions for reactive airway disease in the small child, and contribute to the persistence of chronic lung disease mainly as a new chronic obstructive pulmonary disease phenotype in adulthood.
Asunto(s)
Hiperreactividad Bronquial/terapia , Displasia Broncopulmonar/terapia , Enfermedades Pulmonares/etiología , Adulto , Hiperreactividad Bronquial/etiología , Hiperreactividad Bronquial/fisiopatología , Displasia Broncopulmonar/etiología , Displasia Broncopulmonar/fisiopatología , Niño , Enfermedad Crónica , Hospitalización/estadística & datos numéricos , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Enfermedades Pulmonares/epidemiología , Enfermedades Pulmonares/fisiopatología , Enfermedad Pulmonar Obstructiva Crónica/epidemiología , Enfermedad Pulmonar Obstructiva Crónica/etiología , Enfermedad Pulmonar Obstructiva Crónica/fisiopatologíaRESUMEN
We report a male patient with craniosysnostosis, bilateral radial and ulnar hypoplasia, absent thumbs, poikiloderma, and short stature. His parents are first cousins. Although this patient was originally diagnosed as having Baller-Gerold syndrome it is more likely that he has Rothmund-Thomson syndrome or a similar disorder. This report confirms the overlap between these two syndromes, and that Baller-Gerold syndrome is essentially a diagnosis of exclusion.