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The phenotypic spectrum of Type 2 collagenopathies ranges from lethal achondrogenesis Type 2 to milder osteoarthritis with mild chondrodysplasia. All of them are monoallelic except for the two recent reports showing that biallelic variants in COL2A1 can cause spondyloepiphyseal dysplasia congenita in two children. Here we report two additional families with homozygous variants, c.4135C>T (p.Arg1379Cys) and c.3190C>T (p.Arg1133Cys) in COL2A1 resulting in two distinct skeletal dysplasia phenotypes of intermediate severity. Though all six patients from four families exhibit a spondylo-epimetaphyseal dysplasia, they demonstrate a wide variation in severity of short stature and involvement of epiphyses, metaphyses, and vertebrae. We hypothesize that the variants are likely to be hypomorphic, given the underlying mechanisms of disease causation for known heterozygous variants in COL2A1. With this report, we provide further evidence to the existence of autosomal recessive Type 2 collagenopathy.

Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo- epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile idiopathic arthritis (JIA), both clinically and radiologically. Early detection and diagnosis of PPD are important in helping to relieve the pain and disability associated with this disease and in avoiding unnecessary investigations and anti-rheumatic interventions. Case Details : We report the case of a 15-year-old girl with PPD who was misdiagnosed with JIA. Conclusion : In conclusion, PPD is a rare SEMD and can be confused with JIA, both clinically and radiologically. Early detection and diagnosis of PPD are important in helping to relieve the pain and disability associated with this disease and in avoiding unnecessary investigations and anti-rheumatic interventions. Keywords : Progressive pseudorheumatoid dysplasia, juvenile idiopathic arthritis, spondylo-epi-metaphyseal dysplasia

Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Spondylo-epi-metaphyseal dysplasia with joint laxity (SEMDJL) is characterized by severe dwarfism, articular hypermobility and progressive spinal malalignment. The clinical manifestations of 18 affected persons in 13 families of the Afrikans-speaking community of South Africa have been analysed and it has become evident that survival into adulthood is unusual. SEMDJL is inherited as an autosomal recessive trait.

The spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of disorders comprising more than 20 distinct entities with differing modes of inheritance, all defined by the combination of vertebral, epiphyseal and metaphyseal abnormalities. The presenting symptom of SEMD patients is usually disproportionate short stature. The diagnosis is either based on the specificity of the skeletal manifestations or on the presence of characteristic extraskeletal features which may appear during the course of the disease, highlighting the importance of follow-up of SEMD patients. The complications are variable but epiphyseal dysplasia is often a predominant feature, and the course of the disease is marked by premature osteoarthritis. A systematic survey of odontoid hypoplasia responsible for atlantoaxial instability with a risk of spinal cord is also required.

We report a father and son affected by spondylo-epi-metaphyseal dysplasia with multiple dislocations (Hall type), also called leptodactylic form. This family contributes to the delineation of the clinical and radiological phenotype of this rare condition.

Dyggve-Melchior-Clausen syndrome is a rare autosomal-recessive disorder, characterized by progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation. The clinical and radiological findings resembles Morquio disease at the onset of condition, which may hinder its diagnosis. Two siblings with chatacteristic clinical (progressive postnatal dwarfism and mental retardation) and radiological features (irregular lace-like appearance of the iliac crests) are reported.

No Abstract. NQJHM Vol. 6 (3) 1996: pp. 160-163

Spondylo-epi-metaphyseal dysplasia is a rare skeletal dysplasia showing radiographic abnormalities in the epiphyses and metaphyses of the long and short tubular bones, and in the spine. There are very few reports of a case followed throughout the entire growth period. Here we report the case of a Japanese girl followed from 1 month old to skeletal maturity at 16 years old. She developed progressive kyphoscoliosis at 7 years old, and underwent a surgical correction of the spine at 14 years old. The diagnosis of spondylo-epi-metaphyseal dysplasia was made from examining all the follow-up radiographs showing abnormalities in the spine, long bones and hands involving epiphyses and metaphyses. She had normal stature--a rare finding in this condition.

Three sibs from a Mexican mestizo family affected with a spondylo-epi-metaphyseal dysplasia were studied. The clinical, radiological, and genetic findings were similar to those previously described in Venezuelan Indians of the Irapa tribe. The present patients permit confirmation of the syndrome and provide evidence for autosomal recessive inheritance. Genetic drift is postulated.

SUMMARY Two girls with different unclassified bone dysplasias characterised by severe, generalised platyspondyly are reported. In view of unrewar ding biochemical investigations the clinico-radiographic examinations remain the most im portant method of evaluation in this group of diseases.

The clinical and the radiological features of a “new” bone dysplasia are described. The major radiological changes consist of generalized platyspondyly and a striking enlargment of the epi-metaphyses in the long bones and in the hands. There are additional findings.

SUMMARY METATROPIC DYSPLASIA is a spondylo-epi-metaphyseal dysplasia with characteristic clinical and radiographic features. 37 cases of the disorder were reported up to 1983 accordingly to Beck et al. 14 cases of spondylo-epi-metaphyseal dysplasia of metatropic variety from 9 paediatrk institutions have been analysed. Radiologically and clinically we discern four groups of patients with features of metatropic dysplasia. 1. A lethal, pen-natal type, 2. An autosomal recessive type with diagnostic radiographic findings and often fatal outcome in the first few years of life, 3. A rare dominant type, 4. A mild type consistent probably of different spondylo-epi-metaphyseal dysplasias which show mild metatropic changes. (Metatropic Dysplasia Variants).