47 results found
Article
Roberts syndrome
Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome.
Clinical presentation
general
intrauterine growth restriction
postnatal growth and developmental delay
failure to thrive
t...
Case
Klippel-Feil syndrome with sprengel deformity
Published
21 Apr 2017
92% complete
X-ray
CT
Article
Butterfly vertebra
Butterfly vertebra, also sometimes known as a sagittal cleft vertebra or anterior rachischisis, is a type of vertebral anomaly that results from the failure of fusion of the lateral halves of the vertebral body because of persistent notochordal tissue between them.
Pathology
Butterfly vertebra...
Article
Scoliosis
Scoliosis (plural: scolioses) is defined as an abnormal lateral curvature of the spine. It is quite common in young individuals and is often idiopathic and asymptomatic. In some cases, however, it is the result of underlying structural or neurological abnormalities.
Terminology
Early onset sco...
Case
Sprengel deformity
Published
29 Jan 2024
92% complete
CT
Case
Unfused and incompletedly fused thoracic spinous processes
Published
06 Feb 2021
92% complete
CT
Article
Charcot joint
Charcot joint, also known as a neuropathic joint or Charcot (neuro/osteo)arthropathy, refers to a progressive degenerative/destructive joint disorder in patients with abnormal pain sensation and proprioception.
Epidemiology
In modern Western societies by far the most common cause of Charcot jo...
Article
Congenital diaphragmatic hernia
Congenital diaphragmatic herniation (CDH) accounts for a small proportion of all diaphragmatic herniae. However, it is one of the most common non-cardiac fetal intrathoracic anomalies.
Epidemiology
Congenital diaphragmatic hernias are seen in 1 of every 2000-4000 live births. 84% are left-side...
Case
Hip dislocation and spina bifida
Published
21 Mar 2018
91% complete
X-ray
Article
Pes cavus
Pes cavus, also known as talipes cavus, refers to a descriptive term for a type of foot deformity with an abnormally high longitudinal arch of the foot (caved-in foot).
Epidemiology
Associations
It is often associated with certain neuromuscular disorders such as:
Charcot-Marie-Tooth disease:...
Case
Bertolotti syndrome
Published
08 Feb 2024
94% complete
X-ray
Article
Klippel-Feil syndrome
Klippel-Feil syndrome is a complex heterogeneous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis.
Epidemiology
There is a recognised female predilection 1. Klippel-Feil syndrome has an incidence of 1:40,000-42,...
Article
Spondylolysis
Spondylolysis is a defect in the pars interarticularis of the neural arch, the portion of the neural arch that connects the superior and inferior articular facets. It is commonly known as pars interarticularis defect or more simply as pars defect.
Epidemiology
Spondylolysis is present in ~5% ...
Case
Sprengel deformity
Published
06 Aug 2021
94% complete
X-ray
Case
Spina bifida: cervical spine
Published
26 Aug 2015
90% complete
X-ray
Case
Diastematomyelia type I
Published
26 May 2023
92% complete
MRI
Case
Sprengel deformity with Klippel-Feil syndrome
Published
30 Aug 2023
90% complete
CT
Article
Posterior vertebral fusion anomalies
Posterior vertebral fusion anomalies are relatively common and should not be mistaken for fractures. They are thought to be both developmental and pathological (e.g. spondylolysis) but are typically asymptomatic and incidental, and considered as anatomical variants. There are six types of poster...
Article
Developmental dysplasia of the hip
Developmental dysplasia of the hip (DDH), or in older texts congenital dislocation of the hip (CDH), denotes aberrant development of the hip joint and results from an abnormal relationship of the femoral head to the acetabulum.
Unlike congenital dislocation of the hip, developmental dysplasia o...
Case
Spinal dysraphism with cord lipoma
Published
12 Dec 2017
95% complete
MRI
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