Mucopolysaccharidosis
During the most recent 3-month follow-up visit, the patient was found to have complete resolution of his gibbus deformity and no changes with his neurologic exam.[surgicalneurologyint.com]
Both demonstrate severe gibbus deformity centered at L1 causing moderate to severe bony spinal canal stenosis On physical examination, the patient was noted to be alert and[surgicalneurologyint.com]
(a) MRI thoracolumbar spine, sagittal view. (b) CT thoracolumbar spine, sagittal view.[surgicalneurologyint.com]
Mucopolysaccharidosis 1H
During the most recent 3-month follow-up visit, the patient was found to have complete resolution of his gibbus deformity and no changes with his neurologic exam.[surgicalneurologyint.com]
Both demonstrate severe gibbus deformity centered at L1 causing moderate to severe bony spinal canal stenosis On physical examination, the patient was noted to be alert and[surgicalneurologyint.com]
(a) MRI thoracolumbar spine, sagittal view. (b) CT thoracolumbar spine, sagittal view.[surgicalneurologyint.com]
Mucopolysaccharidosis 4A
Homepage Rare diseases Search Search for a rare disease Mucopolysaccharidosis type 4A ORPHA:309297 Synonym(s): GALNS deficiency Galactosamine-6-sulfatase deficiency MPS4A MPSIVA Morquio disease type A Mucopolysaccharidosis type IVA N-acetylgalactosamine-6-sulfate sulfatase deficiency Prevalence: 1-5 / 10 000[…][orpha.net]
Mucopolysaccharidosis 1
Summary Epidemiology Prevalence is estimated at 1/100,000, with Hurler syndrome accounting for 57% of cases, Hurler-Scheie syndrome accounting for 23% of cases and Scheie syndrome accounting for 20% of cases. Clinical description In the severe form (Hurler syndrome or MPS I-H; see this term) skeletal deformities[…][orpha.net]
Mucopolysaccharidosis 4
Summary Epidemiology Prevalence is approximately 1/250 000 for type IVA but incidence varies widely between countries. MPS IVB is even rarer. Clinical description MPS IVA is a spondylo-epiphyso-metaphyseal dysplasia generally diagnosed during the second year of life, after walking acquisition. Skeletal deformities[…][orpha.net]
Mucopolysaccharidosis 3
The European Union Clinical Trials Register allows you to search for protocol and results information on: interventional clinical trials that are conducted in the European Union (EU) and the European Economic Area (EEA); clinical trials conducted outside the EU / EEA that are linked to European paediatric-medicine[…][clinicaltrialsregister.eu]
Skeletal Dysplasia
Platyspondyly becomes less conspicuous along with development of thoracolumbar gibbus. Dumbbell deformity of the long bones is noted.[jmg.bmj.com]
With advancing age, platyspondyly became less conspicuous along with the development of thoracolumbar gibbus, the long bones showed dumbbell deformity and fluffy mega-epiphyses[jmg.bmj.com]
Mucopolysaccharidosis 1S
During the most recent 3-month follow-up visit, the patient was found to have complete resolution of his gibbus deformity and no changes with his neurologic exam.[surgicalneurologyint.com]
Both demonstrate severe gibbus deformity centered at L1 causing moderate to severe bony spinal canal stenosis On physical examination, the patient was noted to be alert and[surgicalneurologyint.com]
(a) MRI thoracolumbar spine, sagittal view. (b) CT thoracolumbar spine, sagittal view.[surgicalneurologyint.com]
Hereditary Hyperphosphatasia
A large dolichocephalic skull with J-shaped sella turcica, oval or hook-shaped vertebral bodies with gibbus formation in the thoracolumbar region, underdevelopment of the[musculoskeletalkey.com]
[…] supra-acetabular region resulting in a widened acetabular roof, and coxa valga deformities with widened femoral necks, are characteristic.[musculoskeletalkey.com]
Platyspondyly
Mild thoracolumbar gibbus was noted, with hypoplasia of the first vertebral body (Fig. 3).[sajr.org.za]
The proband exhibited biconvex deformity with anterior beaking of the vertebral bodies, but platyspondyly was not evident.[sajr.org.za]