RESUMO
A 3-year-old Algerian boy with unusual facies, mesomelic dysplasia of the upper extremities, meta-epiphyseal changes in the lower extremities and skin dimples is reported. The authors are not able to classify the child's syndrome nosologically.
Assuntos
Anormalidades Múltiplas , Braço/anormalidades , Osteocondrodisplasias/diagnóstico por imagem , Osso e Ossos/diagnóstico por imagem , Pré-Escolar , Face/anormalidades , Humanos , Masculino , Radiografia , SíndromeRESUMO
An unusual case of multicentric/multifocal osteolysis with unique clinical and radiographic features in a 17-year-old girl is reported. The brother of the patient who was probably also affected could not be examined.
Assuntos
Osteólise Essencial , Adolescente , Osso e Ossos/patologia , Feminino , Humanos , Cifose/patologia , Osteólise Essencial/patologia , Escoliose/patologiaRESUMO
A new, dominantly inherited form of peripheral dysplasia in three members of an Algerian family is reported. Two further individuals, not investigated, are also probably affected. The disease is characterised by distinctive clinico-radiological findings. A case of acromesomelic dysplasia of Maroteaux is also reported and the differential diagnosis of peripheral dysplasias is discussed.