Heterogeneity of metatropic dysplasia

Beck, Michael; Roubicek, M; Rogers, John G.; Naumoff, Peter; Spranger, Jürgen W.

doi:10.1007/bf00443368

Cited by 55 publications

(29 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In metatropic dysplasia (MIM 250600), progressive kyphoscoliosis and prominent joints with restricted mobility are characteristic findings [Maroteaux, 1966;Beck et al, 1983]. However, patients with metatropic dysplasia have an abnormally long trunk at birth with abnormal ossification of the vertebrae.…”

Section: Discussionmentioning

confidence: 99%

Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement

Rajab

Kunze

Mundlos

2003

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We report a large inbred kindred from Oman with a distinct type of spondyloepiphyseal dysplasia (SED). We evaluated eight individuals from two consanguineous sibships, one male and seven females between the ages of 2 and 22. The pedigrees strongly suggest autosomal recessive inheritance and both families are likely to be related through distant consanguineous loops. The clinical features include near to normal length at birth, short stature with final height of 110-130 cm, shortening of the upper segment due to severe progressive kyphoscoliosis, severe arthritic changes with joint dislocations, rhizomelic limbs, genu valgum, cubitus valgus, mild brachydactyly, camptodactyly, microdontia, and normal intelligence. Minor radiographic metaphyseal changes were found, but major manifestations were in the spine and the epiphyses. During the first year of life the vertebral bodies are of normal height but the endplates are irregular and intervertebral space is narrow. With age, the vertebral endplates become increasingly irregular, the intervertebral space diminishes further and individual vertebrae start to fuse resulting in a severe short trunk dwarfism with kyphoscoliosis. The epiphysis are small and precocious osteoarthropathy was observed involving small and large joints. The elbow, wrist, and hip joints were affected starting in infancy and showed restricted movement. Osteoarthropathy and spinal involvement resulted in physical handicap in early adulthood. Comparison of these patients with other skeletal dysplasias suggests that they represent a previously undescribed variant of SED.

show abstract

Section: Discussionmentioning

confidence: 99%

Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement

Rajab

Kunze

Mundlos

2003

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Analysis of the literature showed two parentoffspring transmissions [Beck et al, 1983;Kozlowski et al, 1988], two sibship recurrences born to unrelated parents [Maroteaux et al, 1966;Beck et al, 1983], and a patient with MD born from first cousin parents [Shohat et al, 1989]. We recently reported on radiological overlap between the autosomal recessive non-lethal form and the nonlethal autosomal dominant form during long term follow up of a MD patient [Geneviève et al, 2005].…”

Section: Genetic Analysismentioning

confidence: 99%

“…The term ''metatropos'' means ''changing patterns'' in Greek and emphasizes the evolutionary changes in the body proportions of patients with MD. The classification proposed by Beck et al [1983] is based on radiological findings that define three distinct types: a lethal autosomal recessive form, an autosomal recessive non-lethal form and a non-lethal autosomal dominant form with less severe skeletal manifestations and a better clinical outcome.…”

Section: Introductionmentioning

confidence: 99%

“…Since the first description of a patient presenting with radiological manifestation of MD in 1893 [Kaufmann, 1893], 81 other MD patients have been reported in the literature thus far [Beck et al, 1983;Belik et al, 1985;Boden et al, 1987;Kozlowski et al, 1988;Shohat et al, 1989;Manouvrier-Hanu et al, 1995;O'Sullivan et al, 1998;Mukherjee and Ghosh, 2002;Leet et al, 2006;Kumar et al, 2007;Wada et al, 2007] (the patients reported by Ech-Cherif El Kettani et al [2003] do not fit with the diagnosis of MD).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature

Geneviève

Merrer

Feingold

et al. 2008

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Metatropic dysplasia (MD-OMIM: 156530 and 250600) is a rare chondrodysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis, first described in 1893. Up until now, 81 other patients have been reported. The phenotypic variability of MD has led to a classification based on radiological anomalies dividing into three different types: a lethal autosomal recessive form, an autosomal recessive non-lethal form and a non-lethal autosomal dominant form with less severe radiographs manifestations and a better clinical outcome. Here, we report on clinical and radiological features of 19 novel MD patients. We describe new radiological features, including precocious calcification of hyoid and cricoid cartilage, irregular and squared-off calcaneal bones and severe hypoplasia of the anterior portion of first cervical vertebrae. In addition, the observation of an overlap between the autosomal recessive non-lethal form and the non-lethal autosomal dominant form, the rarity of sibship recurrences and the observation of vertical transmissions of MD in the literature argue in favor of an autosomal dominant mode of inheritance for all MD types. This hypothesis is reinforced by the use of the statistical single ascertainment method that rejects the hypothesis of an autosomal recessive mode of inheritance responsible for MD. Therefore, we propose that recurrence in sibs is due to gonadal mosaicism.

show abstract

“…The trunk becomes short due to severe kyphoscoliosis. Inheritance of metatropic dysplasia is heterogeneous [1,2]. The lethal type of metatropic dysplasia is probably inherited as an autosomal recessive trait and the non-lethal type can be transmitted as an autosomal dominant or recessive.…”

Section: Introductionmentioning

confidence: 99%

A new syndrome of "spondylo-epi-metaphyseal dysplasia: mixed type"

Bg¹

2003

Skeletal Radiol

View full text Add to dashboard Cite

A new type of rare bone dysplasia is described, which shares some common features with spondylo-meta-epiphyseal dysplasia: short limb-abnormal calcification type and lethal metatropic dysplasia. Besides these features, the present case has some additional unusual features. Facial malformation was very obvious and of a different type. The nose and nares were completely flattened. Hypertrophied acetabular bones, round densities on the ilia, premature ossification of many epiphyses and carpal bones, curvilinear calcifications in some joints, fusion of the ischiopubic rami, calcification of many costal cartilages and thick sclerotic base of the skull were a few of the significant findings. On the basis of the clinical and radiological features, the condition has been named "spondylo-epi-metaphyseal dysplasia: mixed type".

show abstract

Heterogeneity of metatropic dysplasia

Cited by 55 publications

References 14 publications

Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement

Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement

Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature

A new syndrome of "spondylo-epi-metaphyseal dysplasia: mixed type"

Contact Info

Product

Resources

About