Articles
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1,430 results found
Article
≤11 ribs (differential)
≤11 ribs is associated with a number of congenital abnormalities and skeletal dysplasias, including:
Down syndrome (trisomy 21)
campomelic dysplasia
kyphomelic dysplasias
asphyxiating thoracic dysplasia (Jeune syndrome)
short rib polydactyly syndromes
trisomy 18
chromosome 1q21.1 deletion...
Article
12q14 microdeletion syndrome
12q14 microdeletion syndrome or osteopoikilosis-short stature-intellectual disability syndrome is caused by heterozygous deletion at the region of 12q14. The microdeletion affects the LEMD3 gene which has already been implicated in osteopoikilosis.
Epidemiology
Prevalence is <1 in 1 million li...
Article
18q deletion syndrome
18q deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial, and dist...
Article
22q11.2 deletion syndrome
22q11.2 deletion syndrome, also known as the DiGeorge syndrome or velocardiofacial syndrome, is a syndrome where a small portion of the chromosome 22 is lost and results in a variable but a recognisable pattern of physical and behavioral features.
Epidemiology
The estimated incidence is at ~1 ...
Article
Aase-Smith syndrome
Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder characterized by anemia and skeletal deformity.
Epidemiology
Aase-Smith syndrome has a prevalence of less than 1 per 1,000,000 persons. There have only been 20 reported cases.
Clinical presentation
congenital hyp...
Article
Abdomen radiograph (pediatric)
The abdomen radiograph is a commonly requested examination in the pediatric patient. Children that present for abdominal x-rays are often very unwell, therefore specialized techniques and appropriate communication are essential for gaining the child's cooperation.
Indications
Performing abdom...
Article
Abdominal migraine
Abdominal migraine is a syndrome that presents as recurrent episodes of severe paroxysmal abdominal pain, coupled with vasomotor symptoms, nausea, and emesis that lasts for at least 1 hour 3. Historically it has tended to be a pediatric diagnosis, but it is now increasingly seen in adults. It is...
Article
Abdominoschisis
Abdominoschisis (plural: abdominoschises) refers to a split or defect in the abdominal wall. Some authors use the term synonymously with a gastroschisis. When the defect continues into the thoracic region it is termed a thoracoabdominoschisis. A large abdominoschisis is considered part of the li...
Article
Aberrant left pulmonary artery
Aberrant left pulmonary artery, also known as pulmonary sling, represents an anatomical variant characterized by the left pulmonary artery arising from the right pulmonary artery and passing above the right main bronchus and in between the trachea and esophagus to reach the left lung. It may lea...
Article
Ablepharon macrostomia syndrome
Ablepharon macrostomia syndrome is a very rare genetic disorder characterized by macrostomia, wide mouth and microblepharon.
Clinical presentation
A few of the clinical features of this syndrome are:
syndactyly
zygomatic hypoplasia
delayed speech
microtia
hypoplastic nipples
excessive ...
Article
Absent posterior limb sign
The absent posterior limb sign is one of the main MRI findings of prognostic significance in term neonates with suspected hypoxic-ischemic brain injury. An absent posterior limb sign is defined as loss of the normally distinct hyperintensity on T1-weighted images in the posterior part of the pos...
Article
Absent septum pellucidum
An absent septum pellucidum may rarely be an isolated finding, or more commonly be seen in association with a variety of conditions.
Epidemiology
The septum pellucidum is partly or entirely absent in 2 or 3 individuals per 100,000 in the general population.
Pathology
An absent septum pelluc...
Article
Absent thumb
An absent thumb can have many associations. They include:
Fanconi anemia (pancytopenia-dysmelia syndrome)
Franceschetti syndrome
Holt-Oram syndrome
phocomelia (e.g. thalidomide embryopathy)
Poland syndrome (pectoral muscle aplasia and syndactyly)
Rothmund-Thomson syndrome
Seckel syndrome ...
Article
Abusive head trauma
Abusive head trauma is a term that is used for inflicted head injury that has occurred by either shaking, impact head trauma, or both, as part of the spectrum of non-accidental injury (NAI).
Pathology
Intracranial injuries
Subdural hemorrhage in a child should be viewed with suspicion. Most o...
Article
Accessory ossicles
Accessory ossicles are secondary ossification centers that remain separate from the adjacent bone. They are usually round or ovoid in shape, occur in typical locations and have well-defined smooth cortical margins on all sides.
In most cases, they are congenital in origin, although they may occ...
Article
Accessory sutures
The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centers.
It is important to know these anatomic variations, mainly on the head trauma image studies in children, where it could be difficult to differentiate non-depres...
Article
Acetabular angle
The acetabular angle, also known as the Sharp angle 6, is a radiographic measurement most commonly used when evaluating for potential developmental dysplasia of the hip (DDH). It is most useful in patients who have started to ossify the epiphysis since ossification diminishes the usefulness of u...
Article
Achondroplasia
Achondroplasia is a congenital genetic disorder resulting in rhizomelic dwarfism and is the most common skeletal dysplasia. It has numerous distinctive radiographic features.
Epidemiology
It occurs due to sporadic mutations in the majority of cases but can be inherited as an autosomal dominan...
Article
Achondroplastic base of skull abnormalities
Achondroplasia is the most common cause of short-limb dwarfism. For a general discussion, see the generic article on achondroplasia.
As the skull base forms by endochondral ossification whereas the skull vault by membranous ossification, there is a marked discrepancy in relative size as the sku...
Article
Acrania anencephaly sequence
Acrania anencephaly sequence or acrania–exencephaly–anencephaly sequence is the progression from a relatively normal-appearing exposed brain due to an absent cranium (acrania) to an amorphous brain mass (exencephaly) to no recognisable brain tissue (anencephaly) 1.
Epidemiology
The acrania ane...
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