We successfully treated a patient with achondroplasia with conventional orthodontic techniques. It was followed by long-term retention. The patient, a 12-year-old boy, had chief complaints of occlusal disturbance and mandibular protrusion. He had been diagnosed with achondroplasia and had growth hormone treatment in his early teenage years. His facial profile was concave with a bulging forehead and a retrognathic maxilla. It was characterized by a skeletal Class III jaw-base relationship with a retropositioned maxilla. At the age of 12 years 9 months, maxillary protraction was initiated with a reverse headgear; for 2 years 6 months, the maxillomandibular growth was controlled. After the growth spurt, at the age of 15 years 6 months, leveling and alignment of both dental arches were started with preadjusted edgewise appliances. After 83 months of multibracket treatment, an acceptable occlusion with a Class I molar relationship and an adequate interincisal relationship was achieved, despite the simultaneous marked vertical growth of the mandible. The resultant occlusion was stable during a 6-year retention period, although considerable forward-downward mandibular growth was observed. Conclusively, our results indicated the necessity of long-term observation in this patient with achondroplasia, especially because of the persistent mandibular growth.
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http://dx.doi.org/10.1016/j.ajodo.2016.03.034 | DOI Listing |
Nat Rev Endocrinol
January 2025
Sunnaas Rehabilitation Hospital, Nesodden, Norway.
Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia (dwarfism). Clinical manifestations and complications can affect individuals across the lifespan, including the need for adaptations for activities of daily living, which can affect quality of life. Current international guidelines focus on symptomatic management, with little discussion regarding potential medication, as therapeutic options were limited at the time of their publication.
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December 2024
BioMarin (UK) Limited, Ltd., London, UK.
Background: Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondroplasia. Understanding the vosoritide treatment effect requires evaluation over an extended duration and comparison with outcomes in untreated children.
Methods: After completing ≥6 months of a baseline observational growth study and 52 weeks in a double-blind, placebo-controlled study (ClinicalTrials.
BMC Musculoskelet Disord
December 2024
Department of Orthopedic Surgery, Akita University Graduate School of Medicine, 1-1-1 Hondo, Akita, 010-8543, Japan.
Background: Achondroplasia, the most common form of rhizomelic dwarfism, occurs in approximately 1 in 25,000 individuals. Clinical features include attenuated growth, rhizomelic limb shortening, and craniofacial abnormalities. Limb-lengthening surgery is widely employed to improve quality of life.
View Article and Find Full Text PDFCartilage
December 2024
Department of Orthopaedic Surgery, Korea University Guro Hospital, Seoul, South Korea.
Quant Imaging Med Surg
December 2024
Department of Obstetrics and Gynecology, Graduate School of Medicine Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Background: Fetal skeletal dysplasia (FSD) is a group of systemic bone and cartilage disorders that develop prenatally and can be detected using fetal ultrasonography. However, it is unsuitable for skeletal analysis because it is reflected by supersonic waves in the bone cortex. Three-dimensional computed tomography (3D-CT) is a suitable alternative and has improved the differential diagnosis of FSD during pregnancy.
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