Articles
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1,432 results found
Article
Calcaneal apophysitis
Calcaneal apophysitis, also known as Sever disease, is the painful inflammation of the apophysis of the calcaneus.
Epidemiology
It typically presents in active young children and adolescents, especially those who enjoy jumping and running sports.
Associations
High plantar foot pressures are...
Article
Frykman classification of distal radial fractures
The Frykman classification of distal radial fractures is based on the AP appearance and encompasses the eponymous entities of Colles fracture, Smith fracture, Barton fracture, chauffeur fracture. It assesses the pattern of fractures, involvement of the radioulnar joint and presence of a distal u...
Article
Tectal glioma
Tectal gliomas fall under the grouping of childhood brainstem gliomas and unlike the other tumours in that group they are typically low grade astrocytomas with good prognosis.
Epidemiology
Tectal plate gliomas are encountered in children and adolescents 4. A male predilection has sometimes be...
Article
Medulloblastoma
Medulloblastomas are the most common malignant brain tumours of childhood, most often presenting as midline masses in the roof of the 4th ventricle (at the superior medullary velum) with associated mass-effect and hydrocephalus. Treatment typically consists of surgical resection, radiation thera...
Article
Barth syndrome
Barth syndrome (BTHS), also known as 3-methylglutaconic aciduria type II, is an extremely rare X-linked multisystem disorder that is usually diagnosed in infancy.
Epidemiology
Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births.
Clinical presentation
It is characte...
Article
Increased bone age
A generalised acceleration in bone maturation can result from a number of aetiological factors. They include:
endocrine disorders
idiopathic isosexual precocious puberty
hypothalamic or parathalamic lesion with sexual precocity: e.g.
craniopharyngioma
astrocytoma
hypothalamic hamartoma
hy...
Article
Edwards syndrome characteristics (mnemonic)
A mnemonic to remember the characteristics of Edwards syndrome is:
EDWARDS
Mnemonic
E: eighteen (trisomy 18)
D: digit-overlapping flexion
W: wide head
A: absent intellect (intellectual disability)
R: rocker-bottom feet
D: diseased heart
S: small lower jaw
Article
1p36 deletion syndrome
1p36 deletion syndrome, or monosomy 1p36, is a chromosomal abnormality characterised 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
WAGR syndrome
WAGR syndrome or complex stands for:
Wilms tumours (greatly increased risk)
aniridia
genitourinary anomalies
intellectual disability
Pathology
Genetics
Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.
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...
Article
Deferoxamine-induced bone dysplasia
Deferoxamine-induced bone dysplasia refers to abnormal bone development that may be present in patients undergoing iron-chelation therapy with deferoxamine. Deferoxamine is often used in patients with β thalassaemia major for the prevention and treatment of transfusion-related secondary haemochr...
Article
Lowe syndrome
Lowe syndrome, also known as the oculocerebrorenal syndrome of Lowe, is a multisystem disorder characterised by anomalies primarily affecting the eyes, nervous system, and kidneys.
Epidemiology
It is an extremely rare, pan-ethnic disease, with an estimated prevalence in the general population ...
Article
Thalassaemia
Thalassaemia is an autosomal recessive haemoglobinopathy that originated in the Mediterranean region. The genetic defect causes a reduction in the rate of globin chain synthesis which causes the formation of abnormal haemoglobin molecules. The resultant microcytic anaemia is the characteristic p...
Article
Kabuki syndrome
Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan.
Epidemiology
The estimated incidence is 1:32.000 in Japan. It is sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial.
Clinical present...
Article
Noonan syndrome with multiple lentigines
Noonan syndrome with multiple lentigines, previously known as LEOPARD syndrome (LS), is a rare autosomal dominant RASopathy that has many similarities to Noonan syndrome.
Clinical presentation
Despite a change in formal name, the 'LEOPARD' acronym is still useful to summarise the clinical feat...
Article
Aflatoxins
Aflatoxins are naturally-occurring mycotoxins that are produced by Aspergillus species, especially Aspergillus flavus. They are acutely toxic and carcinogenic.
Acute exposure
High-level aflatoxin exposure can result in acute aflatoxicosis with acute hepatic necrosis, leading to cirrhosis, and ...
Article
Coffin-Lowry syndrome
Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts.
Epidemiology
The condition tends to affect males much more due to its X-linked inheritance. The estimated incidence is at around 1:40,000-50,000.
Clinical presentation
It is characterised by a numb...
Article
Medullary cystic disease complex
Medullary cystic disease complex belongs to group of paediatric cystic renal diseases characterised by progressive tubular atrophy with glomerulosclerosis (chronic tubulointerstitial nephritis) and multiple small medullary cysts.
Epidemiology
There is no recognised gender predilection.
Clini...
Article
Jacobsen syndrome
Jacobsen syndrome, also known as the chromosome 11q deletion syndrome, is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart def...
Article
Joubert syndrome
Joubert anomaly, also known as vermian aplasia or molar tooth midbrain-hindbrain malformation, is an autosomal recessive disorder where there is a variable degree of cerebellar vermal agenesis.
Terminology
When associated with anomalies of the kidneys, liver and/or eyes the term Joubert syndr...
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