Achondroplasia is associated with short pedicles that predispose individuals with this trait to develop symptomatic spinal canal stenosis. Laminoplasty is an excellent means of treating cervical myelopathy due to stenosis in selected individuals. Laminoplasty preserves segmental motion and stability, both of which are of benefit to all individuals. The authors report the successful surgical treatment of an achondroplastic adult woman with laminoplasty. This procedure alleviated her symptoms, and she was doing well at 2-year follow-up.
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http://dx.doi.org/10.3171/2009.4.SPINE09164 | DOI Listing |
J Int Adv Otol
November 2024
Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University College of Medicine, Seoul, Republic of Korea.
Background: Achondroplasia, the most prevalent form of skeletal dysplasia involving short stature, necessitates a multidisciplinary approach that includes otology and auditory rehabilitation. Despite this, the clinical characteristics of hearing loss and otologic manifestations in achondroplasia patients remain poorly defined. This study aimed to explore the prevalence and treatment outcomes of otologic disease in individuals with achondroplasia.
View Article and Find Full Text PDFChilds Nerv Syst
November 2024
Department of Neurosurgery, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK.
Purpose: Pseudoachondroplasia is a rare skeletal dysplasia caused by a mutation in the COMP gene. Infants with pseudoachondroplasia present with rhizomelic dwarfism. Pseudoachondroplasia can resemble achondroplasia, which also presents with a phenotype of rhizomelic dwarfism.
View Article and Find Full Text PDFJCEM Case Rep
August 2024
Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander University, 91054 Erlangen-Nuremberg, Germany.
Achondroplasia is the most common skeletal dysplasia and is associated with serious complications such as foramen magnum stenosis (FMS). This case report describes an infant with achondroplasia who presented with a syndrome of inappropriate antidiuretic hormone secretion (SIADH), secondary to significant FMS and myelocompression. A 2-month-old boy with prenatally diagnosed achondroplasia was referred due to disordered breathing and altered consciousness.
View Article and Find Full Text PDFJ Neurosurg Pediatr
November 2023
2Department of Neurosurgery, Vanderbilt University Medical Center, Nashville, Tennessee.
Objective: Pediatric achondroplasia is often associated with conditions requiring neurosurgical intervention, including CSF diversion and multilevel spinal decompression. However, there is a lack of clinical guidelines and reliable estimates of the benefits and risks of these interventions. This study aimed to summarize the literature on the neurosurgical management of pediatric achondroplasia patients in order to aid in determining optimal treatment and standardization of care.
View Article and Find Full Text PDFActa Med Philipp
August 2023
Department of Otolaryngology - Head and Neck Surgery, College of Medicine and Philippine General Hospital, University of the Philippines Manila.
A 22-month-old male diagnosed with achondroplasia was referred for difficulty in sleeping and was diagnosed to have severe obstructive sleep apnea (OSA) on polysomnography (PSG) (AHI 50.1). This patient had macrocephaly, midface hypoplasia, flat nasal bridge, relative macroglossia and enlarged palatine and adenoid tonsils.
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