The skull in metaphyseal chondrodysplasia type Jansen

Abstract

For some reasons skull findings in Jansen's Metaphyseal Dysplasia have been largely neglected. A survey of the seven known cases (three of them being primarily observed and described by two of the authors) disclose important and constant alterations, namely pronounced basilar thickening and sclerosis, prominent supraorbital and zygomatic arches, underdevelopment of the paranasal sinuses with sclerosis of the adjacent bone, and hypoplasia of the mandible. These alterations give rise to distinct and fairly specific features. The relationship to other craniotubular disorders, such as craniodiaphyseal dysplasia, craniometaphyseal dysplasia, and frontometaphyseal dysplasia is discussed.

Murk Jansen's metaphyseal chondrodysplasia with long-term followup

“…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.…”

Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia

“…They increase with growth of the child and stabilize with epiphyseal fusion. The epiphyses (bone age) and the spine are grossly normal 1,2,6–17 . Taybi and Lachman 2 highlight significant clinical variability of JMD.…”

Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls

“…Studies on other chondrodysplasias, such as achondroplasia and diastrophic dysplasia, have revealed several similar facial features (23)(24)(25). Midfacial hypoplasia leads to the characteristic dysmorphology of achondroplasia (25).…”