Further Delineation of the l0p Deletion Syndrome

[摘要] Nine children with a partial deletion of the short arm of the number 10 chromosome have been described in the medical literature. In two new cases of lop-, the children have several features in common with those previously reported; these features include downslanting short palpebral fissures, ear anomalies, anteverted nostrils, a short neck, and psychomotor delay. At this stage in the delineation of this condition, the phenotypic expression is variable. However, the craniofacial features of the two children with recently reported l0p- and others display a constellation of individually nonspecific but consistent findings that together form a recognizable gestalt. Pediatric practitioners should consider performing karyotypes in children with developmental disabilities accompanied by multiple structural defects and/or multiple physical variations not part of the family background.

[学科分类] 儿科学