1.
BMJ Case Rep
; 16(12)2023 Dec 20.
Artículo
en Inglés
| MEDLINE
| ID: mdl-38123319
2.
BMJ Case Rep
; 20162016 Mar 30.
Artículo
en Inglés
| MEDLINE
| ID: mdl-27030448
Asunto(s)
Enfermedades del Íleon/diagnóstico por imagen , Enfermedades del Prematuro/diagnóstico por imagen , Intususcepción/diagnóstico por imagen , Femenino , Humanos , Enfermedades del Íleon/cirugía , Recién Nacido , Recien Nacido Prematuro , Enfermedades del Prematuro/cirugía , Intususcepción/cirugía , Radiografía
3.
BMJ Case Rep
; 20132013 Sep 20.
Artículo
en Inglés
| MEDLINE
| ID: mdl-24057333
RESUMEN
Pycnodysostosis is a rare genetic disease. Impaired osteoclastic function is the basis for typical phenotypic features and bone fragility. The main differential diagnosis is osteopetrosis, also associated with altered bone remodelling, but with a more severe prognosis. We describe the case of an 8-year-old boy who presented life-threatening obstructive sleep apnoea successfully managed with non-invasive ventilation. Haematological overlap phenotype included anaemia and altered bone marrow, more common in osteopetrosis. Molecular analysis of the CTSK gene revealed a mutation not previously described in the literature.