RESUMO
The Jansen type of metaphyseal dysplasia is a rare disorder with significant clinical and radiographic variability. Two cases of classical Jansen disease and one with some distinctive features suggestive of the Jansen variant are reported.
Assuntos
Osteocondrodisplasias/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , RadiografiaRESUMO
Two half-brothers by the same mother presented with the Robin sequence and facial and digital anomalies. The mother has a normal face and mild hyperopia without abnormality on radiographs of the hands, feet, and pelvis. The older son is 4 years and the younger is 6 months old. Both have normal psychomotor development. To the best of our knowledge this familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome. The occurrence of the syndrome in 2 half-brothers by the same unaffected mother suggests X-linked recessive inheritance.
Assuntos
Fissura Palatina/genética , Face/anormalidades , Dedos/anormalidades , Ligação Genética/genética , Síndrome de Pierre Robin/genética , Cromossomo X , Pré-Escolar , Genes Recessivos , Transtornos do Crescimento/genética , Humanos , Lactente , Masculino , Mosaicismo/genética , SíndromeRESUMO
Antro-choanal polyp is generally recognized to represent approximately 4-6% of all nasal polyps; however, it is much more prevalent in the pediatric population. It warrants special consideration in children because its clinical manifestations may be mimicked by other less benign conditions, such as juvenile angiofibroma, meningoencephalocele, and nasopharyngeal malignancies. Fifty patients with surgically treated nasal polyps were reviewed at the Montreal Children's Hospital, between 1976 and 1986. Fourteen (28%) were antro-choanal polyps. Our results are compared with the literature, and special emphasis was given to radiographic manifestations and the differential diagnoses.
