8,037 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...
Case
13 pairs of ribs and absent radius
Published
02 Sep 2020
91% complete
X-ray
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...
Case
18q syndrome
Published
24 Jan 2010
62% complete
MRI
Article
1p36 deletion syndrome
1p36 deletion syndrome, or monosomy 1p36, is a chromosomal abnormality characterized most commonly by a deletion in the distal segment of the short arm of chromosome one 1.
Epidemiology
The 1p36 deletion syndrome is present in approximately 1 in 5,000 live births. It is the most common termina...
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 ...
Case
5th metatarsal bone bifid apophysis
Published
20 Sep 2020
82% complete
X-ray
Case
5th toe fracture - Salter-Harris type II
Published
26 Mar 2019
91% complete
Annotated image
X-ray
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...
Case
AAST grade IV kidney injury with CEUS follow-up
Published
21 Nov 2019
98% complete
CT
Ultrasound
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...
Case
Abdominal CSF pseudocyst
Published
20 Oct 2010
13% complete
Case
Abdominal foreign body - screw
Published
02 Aug 2022
75% complete
X-ray
Case
Abdominal lymphocele
Published
15 Nov 2008
70% complete
CT
X-ray
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...
Case
Abdominal multitrauma - pediatric
Published
13 Aug 2020
95% complete
CT
Annotated image
Case
Abdominal premesenteric cystic lymphangioma
Published
14 Oct 2020
68% complete
CT
Case
Abdominal surface anatomy (creative commons illustration)
Published
20 Mar 2018
35% complete
Diagram
Case
Abdominopelvic rhabdomyosarcoma
Published
04 Jun 2020
77% complete
CT
Unable to process the form. Check for errors and try again.