Jansen type of spondylometaphyseal dysplasia

Abstract

Metaphyseal dysplasia, type Jansen (JMD), is a rare skeletal dysplasia with characteristic radiographic abnormalities. Of the various types of metaphyseal dysplasia, JMD shows the most severe alteration in metaphyseal architecture. All of the long tubular bones, including those of the hands and feet, show metaphyseal irregularity with a fragmented appearance and slight widening. The adjacent physes are abnormally widened, while the epiphyses tend to be slightly enlarged, rounded but otherwise normal. The spine in infancy and childhood usually appears normal. This report describes a young girl with metaphyseal changes typical of JMD except for the hands and feet, which appeared normal. She also showed very unusual abnormalities of the spine. This appears, therefore, to represent a unique osteochondrodysplasia for which we propose the term spondylometaphyseal dysplasia, type Jansen.

A new form or a variant of SMD type A4

“…The Jansen type of SMD reported by Campbell et al (2000), which is a phenotypic variant of Jansen metaphyseal chondrodysplasia, shares similar phenotypic features with our patient (Table 1). We decided to analyze the PTHR1 gene encoding PTH/PTHrP receptor for parathyroid hormone related peptide (PTHrP) and parathyroid hormone (PTH), since mutations in this gene are a known cause of Jansen metaphyseal chondrodysplasia (Schipani et al 1999).…”

“…We reviewed the literature and found no cases that fully resembled our patient who shares most phenotypic similarities with SMDTA4 patients described by Maroteaux and Spranger (1991), Duetting et al (1998) as well as a patient reported by Campbell et al (2000). Maroteaux and Spranger (1991) classified SMD accordingly to the femoral neck involvement, severity of metaphyseal changes and spinal abnormalities.…”

Severe neonatal spondylometaphyseal dysplasia in two siblings

“…The H223R mutation and mutations in the codon 410 are considered as the most frequent cause of Jansen metaphyseal chondrodysplasia [Schipani et al, 1999;Bastepe et al, 2004]. A phenotypic variant of Jansen metaphyseal chondrodysplasia, the Jansen type of SMD [Campbell et al, 2000], shares many phenotypic features with those of our patients.…”

“…Jansen type of SMD [Campbell et al, 2000] shows severe alteration in metaphyseal architecture with grossly normal epiphyses. Spinal changes are characterized by broad coronal clefts and hypoplastic posterior segments; these features were absent in the spines of our patients.…”

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

“…Significant spine findings in JMD included thoracic and lumbar spine hyperlordosis, platyspondyly, and moderate to severe progressive scoliosis [7,12] .…”