Metatropic dysplasia : case reports

Background: Metatropic dysplasia (changeable dysplasia) presents with characteristic clinical and diagnostic radiographic findings already present at birth. The aim of this paper is to familiarize radiologists, pediatricians and orthopedic surgeons with this relatively common bone dysplasia and to stress the importance of its early diagnosis. Case Reports: Six patients with Metatropic Dysplasia and one with Metatropic Dysplasia Variant are reported. The group consisted of 6 males and 1 female. Conclusions: Early diagnosis of Metatropic Dysplasia is of utmost importance for appropriate treatment and prognostication of this disorder, apparently "benign" at birth. Late diagnosis is the result of unfamiliarity with this bone dysplasia

Zespół zrostowy kręgosłupa, nadgarstka i śródstopia (rzadko rozpoznawany, nierzadko występujący)

Spondylocarpotarsal synostosis syndrome - a rarely recognised entity - is characterised by malsegmentation of the spine and carpal/tarsal fusions (1,2,5-9). The main reason for the rarity of its diagnosis is that radiographs of the hands and feet are not routinely performed in children with scoliosis and/or kyphoscoliosis, and fusion of the carpal/tarsal bones may not be evident in preschool children. We report four patients with spondylocarpotarsal synostosis syndrome; the diagnosis in three of these was not made until radiographs of the hands were performed. The amount of scoliosis was much less evident in two of these patients (sibs) than in the others

Pachydermoperiostosis-critical analysis with report of five unusual cases

Abstract Pachydermoperiostosis (idiopathic hypertrophic arthropathy) {MIM 167100} is an uncommon disease characterized by unique phenotype (digital clubbing and pachydermia) and distinctive radiographic appearances (periostosis). Two families are reported that, in additional to the typical phenotype and radiographic characteristics of pachydermoperiostosis, show some rare and/or unusual, not yet reported, clinical findings. In the first family, distinctive features were severe progressive arthritis with villonodular involvement of the knees. The clinical course of the disease was much more severe than usually reported. The older brother was disabled at the age of 29 years. In the second family, the clinical history was exceptional, with unique early appearance of clinical signs. Pachydermoperiostosis is usually inherited as a dominant trait, but probable autosomal recessive inheritance has been reported. Also in the present families, autosomal recessive inheritance is likely, possibly explaining the severe clinical course of the disease. Differential diagnosis and the confusing nomenclature of pachydermoperiostosis are discussed

Case Reports: Legg-Calvé-Perthes Disease in Czech Archaeological Material

Legg-Calvé-Perthes disease (osteochondrosis of the femoral head) has been recognized in archaeological material for nearly a century but is extremely rare. We describe two Czech cases from archaeological findings. The first case was diagnosed in the skeleton of a man older than 50 years with the left hip affected. The skeleton was in grave Number 2 of the Langobard cemetery at Lužice (Moravia) and dated to the end of the fifth century and the beginning of the sixth century AD. The second case was described by J. Chochol in 1957 on the left femur and half of the pelvis of a skeleton from an archaeological investigation in Brandýsek (Bohemia), ninth to tenth centuries AD. Using the diagnostic criteria of Ortner and Putschar, we excluded slipped capital femoral epiphysis in both cases. We discuss the differential diagnosis of Legg-Calvé-Perthes disease versus unilateral and bilateral osteochondroses of the femoral head in archaeological and current clinical material

Czech dysplasia metatarsal type: another type II collagen disorder

Czech dysplasia metatarsal type is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. Shortness of third and/or fourth toes is a frequently observed clinical feature. Similarities between individuals with this dysplasia and patients with an R275C mutation in the COL2A1 gene, prompted us to analyze the COL2A1 gene in the original families reported with Czech dysplasia. Targeted sequencing of exon 13 of the COL2A1 gene was performed, followed by sequencing of the remaining exons in case the R275C mutation was not identified. We identified the R275C substitution in two of the original patients reported with Czech dysplasia and three additional patients. All affected individuals had a similar phenotype characterized by normal height, spondyloarthropathy, short postaxial toes and absence of ocular and orofacial anomalies. The R275C mutation was excluded in a third patient reported with Czech dysplasia. However, the identification of the Y1391C mutation in this patient with disproportionate short stature made the diagnosis of spondyloperipheral dysplasia (SPD) more probable. The Y1391C mutation is located in the C-propeptide of the procollagen chain and has been reported before in a patient with the Torrance type of lethal platyspondylic skeletal dysplasia (PLSD-T). Our observation of the same Y1391C mutation in an additional unrelated patient with SPD further supports the evidence that PLSD-T and SPD represent a phenotypic continuum. The R275C mutation in the COL2A1 gene causes a specific type II collagen disorder that was recently delineated as Czech dysplasia

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Hajdu-Cheney syndrome is a rare genetic disorder whose hallmark is acro-osteolysis, shortening of terminal phalanges and generalized osteoporosis. We assembled a cohort of 7 families with the condition and performed whole exome resequencing on a selected set of affected patients. One protein-coding gene, NOTCH2, carried heterozygous truncating variants in all patients and their affected family members. Our results replicate recently published studies of HCS and further support this as the causal gene for the disorder. In total we identified five novel and one previously reported mutation, all clustered near the carboxyl terminus of the gene, suggesting an allele specific genotype-phenotype effect since other mutations in NOTCH2 have been reported to cause a form of Alagille syndrome. Notch mediated signaling is known to play a role in bone metabolism. Our results support a potential therapeutic role for Notch pathways in treatment of osteoporosis. © 2011 Wiley-Liss, Inc.status: publishe