Items tagged “syndrome”
262 results found
Article
Preaxial polydactyly
Preaxial polydactyly refers to polydactyly where the additional digit is towards the first digit of the hand (radial side) or foot (medially).
Radial polydactyly can be classified using the Wassel classification system.
Epidemiology
Preaxial polydactyly is less common than postaxial polydacty...
Article
Heyde syndrome
Heyde syndrome is an association between aortic valve stenosis and gastrointestinal hemorrhage.
The etiology of the gastrointestinal bleeding in this setting is uncertain, but it is thought to be related to intestinal angiodysplasia. The strength of this association independent of age-related d...
Case
Quadrilateral space syndrome
Published
11 Jun 2015
80% complete
MRI
Article
Millard-Gubler syndrome
Millard-Gubler syndrome, also known as ventral pontine syndrome, is one of the crossed paralysis syndromes, which are characterized by cranial nerves VI and VII palsies with contralateral body motor or sensory disturbances 1-3.
Clinical presentation
ipsilateral facial and contralateral body he...
Case
Mayer-Rokitansky-Küster-Hauser syndrome
Published
21 Dec 2016
80% complete
MRI
Diagram
Case
Dorsal brainstem syndrome
Published
25 Jan 2017
77% complete
MRI
Article
Raymond syndrome
Raymond syndrome is a posterior circulatory stroke syndrome due to a lesion in the ventral medial mid-pons. It is an extremely rare condition, with only a handful of cases described in the literature.
Clinical presentation
Clinically, 2 subtypes have been reported 1:
classic type
abducens ne...
Case
Herlyn-Werner-Wunderlich syndrome
Published
20 May 2017
95% complete
MRI
Article
Babinski-Nageotte syndrome
Babinski-Nageotte syndrome is thought to be a brainstem stroke syndrome in between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome), but distinct to that of Cestan-Chenais syndrome 1,2.
Terminology
In many texts this eponymous syn...
Article
Adie pupil
Adie pupil (also known as tonic pupil) is caused by idiopathic degeneration of the ciliary ganglion, which sometimes occurs following a viral or bacterial illness. It is usually unilateral and typically affects young females 1.
Adie pupil represents a large dilated "tonic pupil", which does not...
Case
Klippel-Trénaunay-Weber syndrome
Published
07 Jan 2019
92% complete
CT
Article
Neurofibromatosis type 1 (mnemonic)
Clinical diagnosis requires the presence of at least two criteria to confirm the presence of neurofibromatosis type 1 (NF1) 1.
These diagnostic criteria can be remembered with the mnemonic:
CAFE SPOT
Mnemonic
C: café-au-lait spots (greater than six seen during one year)
A: axillary or ingui...
Case
Yunis-Varón syndrome
Published
09 Mar 2019
89% complete
X-ray
CT
Ultrasound
MRI
Case
Multiple cerebral cavernous malformations
Published
09 Sep 2019
98% complete
MRI
CT
Article
DICER1 syndrome
DICER1 syndrome is a rare autosomal dominant disorder predisposing individuals to the development of multiple tumor types.
Epidemiology
DICER1 syndrome most commonly manifests in children, adolescents and young adults 8.
Clinical presentation
The clinical presentation will depend on the pa...
Case
Van Wyk–Grumbach syndrome
Published
05 Dec 2020
77% complete
Ultrasound
X-ray
MRI
Case
Multiple osteochondromas
Published
14 Jun 2022
93% complete
CT
Pathology
Article
Cestan-Chenais syndrome
Cestan-Chenais syndrome is a rare brainstem stroke syndrome with features between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome), but distinct to that of Babinski-Nageotte syndrome 1,2.
Clinical presentation
Cestan-Chenais syndr...
Case
Zollinger-Ellison syndrome
Published
03 Jul 2023
80% complete
CT
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...