A new syndrome? A case report with short broad terminal phalanges

Abstract

The proposita, a 7 years old boy, was the second born to relatedparents. His physical findings was included short stature, moderatemicrocephaly, short broad terminal phalanges, broad toe and thumbs,short-broad nails with inability to flex the knees. He had down slantingpalpebral fissures, thin lips, micro-retrognathia and long-smoothphiltrum. His trunk was narrow and he had pectus carinatum.His X-rays findings revealed impressio digitalis of calvarium, end plateirregularities of vertebral bodies and epiphyseal irregularities of knees.Especially, terminal phalanges of feet and hands were very short.Shortness of terminal phalanges and flexion deformity of knee weremajor signs of the proposita. These findings were suggesting a newsyndrome