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Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.
Orthop Surg. 2018 Aug; 10(3):241-246.OS

Abstract

OBJECTIVES

There are several types of metaphyseal chondrodysplasia and various clinical types have been differentiated. The Schmid type of metaphyseal chondrodysplasia is the most common. Diffuse metaphyseal flaring, irregularity, and growth plate widening, which are most severe in the knees, are the most striking radiological features of this disease. The Schmid type of metaphyseal dysostosis is characterized by failure of normal mineralization of the zone of provisional calcification, leading to widened physes and enlarged knobby metaphyses, effectively causing shortening of the tubular bones, splaying of the metaphyses, coxa vara, and bow legs. Orthopaedic interventions were primarily performed on the lower extremities.

METHODS

Twelve children (seven girls and five boys) aged 7-10 years were enrolled in this study. Moderate short stature was a uniform feature associated with predominant involvement of the proximal femora and bow legs resulted in the development of angular deformities. A waddling gait was a consequence of coxa vara in eight children. Valgus osteotomy of the proximal femur was planned after physeal closure for the group of children with coxa vara. Hemiepiphysiodesis was performed to re-align the genu varum in three children.

RESULTS

Other forms of metaphyseal dysostosis were ruled based on full clinical and radiographic phenotypes, with confirmation through molecular pathology. Mutations in the COL10A1 gene located on chromosome 6q21-q22.3 were confirmed. Re-alignment was accomplished in our group of patients.

CONCLUSION

The most striking clinical features of Schmid metaphyseal chondrodysplasia which appear within the first 2-3 years of life are: moderate short limbs and short stature, a waddling gait, and increasing shortness of stature with age. The Schmid type of metaphyseal chondrodysplasia is a disorder that arises from defective type X collagen, which is typically found in the hypertrophic zone of the physes. Moderate short stature and a waddling gait associated with pain are the most common clinical presentations. Osteotomies to correct bow legs are sometimes combined with lengthening procedures. Recurrence of the deformities with growth is not uncommon; therefore, hemiepiphysiodesis or stapling might be indicated in some cases.

Authors+Show Affiliations

First Medical Department, Hanusch Hospital, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Vienna, Austria. Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.Paediatric Orthopaedic Surgery Department, Children Hospital, Tunis, Tunisia.Paediatric Orthopaedic Surgery Department, Children Hospital, Tunis, Tunisia.Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Saint-Petersburg, Russia.Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Saint-Petersburg, Russia.Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Saint-Petersburg, Russia.Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.Institute of Medical Chemistry, Medical University of Vienna, Austria.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30027601

Citation

Al Kaissi, Ali, et al. "Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management." Orthopaedic Surgery, vol. 10, no. 3, 2018, pp. 241-246.
Al Kaissi A, Ghachem MB, Nabil NM, et al. Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management. Orthop Surg. 2018;10(3):241-246.
Al Kaissi, A., Ghachem, M. B., Nabil, N. M., Kenis, V., Melchenko, E., Morenko, E., Grill, F., Ganger, R., & Kircher, S. G. (2018). Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management. Orthopaedic Surgery, 10(3), 241-246. https://doi.org/10.1111/os.12382
Al Kaissi A, et al. Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management. Orthop Surg. 2018;10(3):241-246. PubMed PMID: 30027601.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management. AU - Al Kaissi,Ali, AU - Ghachem,Maher B, AU - Nabil,Nesseb M, AU - Kenis,Vladimir, AU - Melchenko,Eugene, AU - Morenko,Ekatrina, AU - Grill,Franz, AU - Ganger,Rudolf, AU - Kircher,Susanne G, Y1 - 2018/07/19/ PY - 2016/05/02/received PY - 2017/08/17/accepted PY - 2018/7/22/pubmed PY - 2018/12/18/medline PY - 2018/7/21/entrez KW - Bowed legs KW - Metaphyseal dysostosis Schmid type KW - Mutations in the COL10A1 KW - Surgical corrections SP - 241 EP - 246 JF - Orthopaedic surgery JO - Orthop Surg VL - 10 IS - 3 N2 - OBJECTIVES: There are several types of metaphyseal chondrodysplasia and various clinical types have been differentiated. The Schmid type of metaphyseal chondrodysplasia is the most common. Diffuse metaphyseal flaring, irregularity, and growth plate widening, which are most severe in the knees, are the most striking radiological features of this disease. The Schmid type of metaphyseal dysostosis is characterized by failure of normal mineralization of the zone of provisional calcification, leading to widened physes and enlarged knobby metaphyses, effectively causing shortening of the tubular bones, splaying of the metaphyses, coxa vara, and bow legs. Orthopaedic interventions were primarily performed on the lower extremities. METHODS: Twelve children (seven girls and five boys) aged 7-10 years were enrolled in this study. Moderate short stature was a uniform feature associated with predominant involvement of the proximal femora and bow legs resulted in the development of angular deformities. A waddling gait was a consequence of coxa vara in eight children. Valgus osteotomy of the proximal femur was planned after physeal closure for the group of children with coxa vara. Hemiepiphysiodesis was performed to re-align the genu varum in three children. RESULTS: Other forms of metaphyseal dysostosis were ruled based on full clinical and radiographic phenotypes, with confirmation through molecular pathology. Mutations in the COL10A1 gene located on chromosome 6q21-q22.3 were confirmed. Re-alignment was accomplished in our group of patients. CONCLUSION: The most striking clinical features of Schmid metaphyseal chondrodysplasia which appear within the first 2-3 years of life are: moderate short limbs and short stature, a waddling gait, and increasing shortness of stature with age. The Schmid type of metaphyseal chondrodysplasia is a disorder that arises from defective type X collagen, which is typically found in the hypertrophic zone of the physes. Moderate short stature and a waddling gait associated with pain are the most common clinical presentations. Osteotomies to correct bow legs are sometimes combined with lengthening procedures. Recurrence of the deformities with growth is not uncommon; therefore, hemiepiphysiodesis or stapling might be indicated in some cases. SN - 1757-7861 UR - https://www.unboundmedicine.com/medline/citation/30027601/Schmid's_Type_of_Metaphyseal_Chondrodysplasia:_Diagnosis_and_Management_ DB - PRIME DP - Unbound Medicine ER -