1.
J Assoc Physicians India
; 64(5): 69-71S, 2016 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27735155
RESUMO
Proteus syndrome is an extremely rare disorder with a documentation of only 100 cases world over till date. This sporadic disorder involves the skeletal system, central nervous system, eyes, skin, soft tissues and vascular system. We report a case of Proteus syndrome in a 22 year male presenting with abnormally enlarged and hypertrophied feet resulting in marked physical constraints.
Assuntos
Doenças do Pé/complicações , Hiperostose/diagnóstico por imagem , Perna (Membro)/diagnóstico por imagem , Síndrome de Proteu/diagnóstico , Humanos , Masculino , Adulto Jovem
2.
J Assoc Physicians India
; 63(10): 83-4, 2015 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27608704
RESUMO
We present a very rare case of mucopolysaccharidosis type I (MPS I) which presented to us with respiratory distress. Our patient had short stature, coarse facial features, claw hands and clouding of both corneae. This article highlights the salient features present in a case of mucopolysaccharidosis type I.