ABSTRACT
El síndrome tricorinofalángico I (TPRSI) tiene una herencia autosómica dominante, la proporción de casos «de novo» es desconocida1. Se caracteriza por rasgos faciales únicos, nariz de extremo bulboso, surco nasolabial plano y alargado, cabello escaso y de crecimiento lento. Anomalías esqueléticas que incluyen falanges y metacarpianos cortos -braquidactilia-, epífisis en forma de cono, displasia de cadera y estatura baja1-3. Presentamos los casos de una familia con 7 miembros afectos de TRPSI
Trichorhinophalangeal syndrome I (TPRSI) has an autosomal dominant inheritance; the proportion of «de novo» cases is unknown1. It is characterized by unique facial features, bulbous nose, flat and elongated nasolabial furrow, thin hair and slow growth. Skeletal abnormalities that include short phalanges and metacarpals -brachydactyly-, cone-shaped epiphyses, hip dysplasia and short stature1-3
Subject(s)
Humans , Langer-Giedion Syndrome/diagnosis , Facies , Musculoskeletal Abnormalities/diagnostic imaging , Ectodermal Dysplasia/diagnosis , Genetic Diseases, Inborn/diagnosis , Bone and Bones/abnormalitiesABSTRACT
No disponible
Subject(s)
Humans , Female , Child , Calcinosis/drug therapy , Dermatomyositis/drug therapy , Rituximab/therapeutic use , Antirheumatic Agents/therapeutic use , Calcinosis/etiology , Dermatomyositis/complications , Dermatomyositis/diagnostic imaging , Calcinosis/diagnostic imagingABSTRACT
Trichorhinophalangeal syndrome I (TPRSI) has an autosomal dominant inheritance; the proportion of «de novo¼ cases is unknown1. It is characterized by unique facial features, bulbous nose, flat and elongated nasolabial furrow, thin hair and slow growth. Skeletal abnormalities that include short phalanges and metacarpals -brachydactyly-, cone-shaped epiphyses, hip dysplasia and short stature1-3.
Subject(s)
Fingers/abnormalities , Hair Diseases/diagnosis , Langer-Giedion Syndrome/diagnosis , Nose/abnormalities , Female , Humans , Male , PedigreeABSTRACT
No disponible
Subject(s)
Humans , Male , Child, Preschool , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/diagnostic imaging , Magnetic Resonance Spectroscopy/methods , Wrist/pathologyABSTRACT
No disponible
Subject(s)
Humans , Female , Child , Lipomatosis/surgery , Knee Joint/physiopathology , Synovitis/surgery , Recovery of FunctionSubject(s)
Joint Diseases/diagnosis , Lipoma/diagnosis , Magnetic Resonance Spectroscopy , Child , Female , Humans , Knee Joint , Synovial MembraneABSTRACT
No disponible
