Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type.

Abstract

A case of metaphyseal chondrodysplasia Jansen Type is reported. Clinical and radiological features of this case are presented, and are compared with the 12 cases of this syndrome that have been previously reported.

Skull Base and Cervical Spine Involvement in Jansen Syndrome: Case Report

“…There is a steady increase in severity of bone changes in adults with prominence of supraorbital and zygomatic arches and underdevelopment of the paranasal sinuses, giving rise to a very distinctive facial profile [3,20] . Brachycephaly and dolichocephaly have been reported as well but in general, the bone involvement with sclerosis in JMD is limited to the skull base as compared to other dysplasias [12] .…”

“…The most distinctive clinical findings include dwarfism with short and deformed limbs [2,3] . Radiographically, there is distinctive involvement of the metaphysis of long bones, including abnormal cartilage development and bone formation [4] .…”

Murk Jansen's metaphyseal chondrodysplasia with long-term followup

“…Nazara et al tabulated the main radiographic and clinical features found in twelve previous published cases of Murk Jansen's metaphyseal chondroplasia (Tables 1 and 2) [12]. Authoritative textbooks such as Spranger, Langer, and Wiedemann's Bone Dysplasias [16] describe clubfeet and a reticular calvarium as cardinal features, yet these have been present only in 1 and 3 of 12 patients respectively [1,7,12].…”

“…Authoritative textbooks such as Spranger, Langer, and Wiedemann's Bone Dysplasias [16] describe clubfeet and a reticular calvarium as cardinal features, yet these have been present only in 1 and 3 of 12 patients respectively [1,7,12]. Not discussed by Nazara, is that two previous patients [2,3] also required corrective osteotomies; perhaps other reported cases have undergone surgery since their publication.…”

“…Ten similar sporadic cases have been reported [2][3][4][5][6][7][8][9][10][11], as well as one affected mother and daughter, for whom autosomal dominant inheritance was proposed [12]. A spectrum of severity is present in the published cases [10,14] but radiographs of all thirteen patients are consistent with Jansen's metaphyseal chondrodysplasia (MJMC), the most severe form of defective metaphyseal bone formation.…”