Condrodisplasia metafisaria tipo Schmid: un caso de presentación familiar / Schmid type metaphyseal chondrodysplasia: a case of familial presentation

Resumen: dentro de las displasias óseas hay cuadros clínicos que hacen parte de las denominadas condrodisplasias metafisarias, conocidas también como disostosis metafisarias, las cuales presentan mínimas diferencias entre sí, lo que las hace susceptibles de ser confundidas con otros cuadros clínicos como la acondroplasia y el raquitismo. En este artículo se presenta un caso clínico de condrodisplasiametafisaria tipo Schmid de un paciente de Popayán, Colombia, al igual que algunas consideracionessobre las principales características clínicas, radiológicas, de diagnóstico y tipo de herencia de esta enfermedad. El caso clínico corresponde a un paciente de género masculino de 23 meses de edad, en quien se inician estudios por la presencia de talla baja desproporcionada. Los resultados mostraron coxa vara, genu varo y extremidades cortas, con un fenotipo similar en la madre y el abuelo materno. Las radiografías evidencian la presencia de irregularidad con “deshilachamiento” de las metáfisis de huesos largos; además, ensanchamiento y esclerosis en las metáfisis proximales de ambos fémur. La meta final es ser confirmado por medio de pruebas genéticas. En conclusión, las condrodisplasias metafisarias, especialmente la tipo Schmid, son enfermedades caracterizadas por talla baja y hallazgos radiológicos especiales, dados principalmente por el compromiso metafisario a nivel de los huesos largos, que en conjunto con las características fenotípicas pueden conducir a la sospecha e identificación de este tipo de patología.

Abstract: between the dysplastic bone pathologies there are some medical conditions that belong to so-called metaphyseal chondrodysplasias, also known as metaphyseal dysostosis. These differ slightly from each other, making them capable of being confused with other medical conditions such as achondroplasia and rickets. This article presents a case of Schmid type metaphyseal chondrodysplasiafrom Popayan, Colombia, as well as some considerations about the main clinical characteristics, radiological, diagnosis, and type of inheritance of this disease. The clinical case corresponds to a male patient, 23 months old, who was studied by the presence of disproportionate short stature. Findings showed coxa vara, genu varus, and short limbs, with similar phenotype to the mother and maternal grandfather. The radiological images showed the presence of irregularity with ®fraying¼ of the metaphysis of long bones, in addition to widening and sclerosis in the proximal metaphysis of both femurs. The ultimate goal is to be confirmed by genetic testing. In conclusion, the metaphyseal chondrodysplasias, especially Schmid type, are diseases characterized by short stature and by special radiological findings, mainly given by the metaphyseal affectation of long bones, which together with the phenotypic characteristics may lead to the suspicion and identification of this disease.Keywords: Schmid type metaphyseal chondrodysplasia, osteochondrodysplasias, collagen type.

Cartilage-hair Hypoplasia Caused by Novel Compound Heterozygous RMRP Mutations.

Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia, caused by mutations in the RMRP gene. The skeletal abnormalities include irregular metaphyses and cone shaped epiphyses of the hands. Molecular diagnosis confirmed two novel RMRP mutations in a compound heterozygous state in two siblings with this condition.

Schmid Type of Metaphyseal Chondrodysplasia: 17 years Follow-up Case / 대한정형외과학회잡지

Metaphyseal chondrodysplasia (MCD) is a relatively rare hereditary disease of the skeletal system, in which disproportionate dwarfism sparing the trunk is noted. Among the four subtypes of MCD, the Schmid type is relatively common and shows minimal clinical abnormalities. We report a boy, diagnosed to have MCD, Schmid type, and who was followed-up for 17 years until skeletal maturity, during this period he underwent proximal femoral valgus osteotomies as well as tibial deformity correction with lengthening and femoral lengthening procedures.

Metaphyseal Chondrodysplasia, Schmid Type: A Case Report / 대한정형외과학회잡지

Metaphyseal Chondrodysplasia is rare, hereditary disease characterized by defective enchondral bone formation with major manifestation at the metaphysis. Jansen originally used the term metaphyseal dysostosis in 1934 to describe a patient who has a short stature with irregular metaphysis of the lower extremity and hands. Schmid reported a milder form of Metaphyseal dysostosis in 1949, which is more common and is transmitted in autosomal dominant trait. Mukusick reported another form of Metaphyseal Chondrodysplasia which is associated with ectodermal abnormalities in 1964. The other different types were reported alos, but they are extremly rare. The basic defect in the disease may be the failure of hypertrophic cells to mature and degenerate, caused by a block in or deficiency of enzymes of glycolytic cycle. The skull and spine are spared. Serum chemistry and kidney function are normal. The only treatment necessary, once adequate diagnosis has been estabilished, is careful observation and properly timed corrective orthopaedic surgery. We experienced one case of Schmid Type Metaphyseal Chondrodysplasia. Corrective osteotomy was performed and satisfactory result was obtained.

A Case of Metaphyseal Chondrodysplasia / 대한정형외과학회잡지

Metaphyseal Chondrodysplasia is a disease characterized by metaphyseal ossification leading to shortening of stature. The extremities, especially lower, and mainly affected, resulting in a disproportionate drarfing which spares the trunk. The first case was reported in a patient with irregular metaphysis of lower extremities and hands, and severe shorteness of stature by Murk Jansen in 1934. A milder form of Metaphyseal Chondrodysplasia was noted in 1949 by Schmid, which is more common and transmitted in autosomal dominant. Mckusick recently reported another form of Metaphseal Chondrodysplasia, and other types were reported, but they are extremly rare, and of little clinical significance. In the Schmid type, patient is normal at birth, but characteristically shortness of stature, bowed leg, and waddling gait developed at biginning of walking. Ali labratory findings including serum calcium level, phosphorous, alkaline phosphatase, renal function test is normal in Metaphyseal Chondrodysplasia. The most difficult differential diagnosis is Vitamin D-resistant rickets in clinical and x-ray findings. The only treatment is careful observation and properly timed corrective surgery. Authors experienced on case of Schmid type of Metaphyseal Chondrodysplasia which had been treated with Vitamin D under impression of rickets for 1 year before the case was consulted to Orthopedic Department. Proximal tibial osteotomy and subtrochanteric valgus osteotomy were performed for the correction of genu varum and coxa vara deformity with satisfactory results for one year follow up.