Articles
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1,434 results found
Article
Gillespie syndrome
Gillespie syndrome is a rare genetic condition presenting as a mydriasis, secondary to an omnipresent partial aniridia. The abnormal iris is bilateral, with a highly-specific scalloped inner margin, due to hypoplasia of the central constrictor pupillae fibers. Associated features include an unch...
Article
Fibromatosis colli
Fibromatosis colli is a rare form of infantile fibromatosis that occurs within the sternocleidomastoid muscle.
Epidemiology
Fibromatosis colli typically presents a few weeks after birth. There may be a slight male predilection.
Clinical presentation
Infants present with swelling in the neck ...
Article
Dysgenesis of the corpus callosum
Dysgenesis of the corpus callosum may be complete (agenesis) or partial (dysgenesis) and represents an in utero developmental anomaly. It can be divided into:
primary agenesis: corpus callosum never forms
secondary dysgenesis: corpus callosum forms normally and is subsequently destroyed
Epide...
Article
Grey matter heterotopia
The grey matter heterotopias are a relatively common group of conditions characterized by interruption of normal neuronal migration from near the ventricle to the cortex, thus resulting in "normal neurons in abnormal locations" 2. They are a subset of disorders of cortical formation 3,4.
Grey m...
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Endochondral ossification
Endochondral ossification describes the process of ossification from mesenchymal cells (stem cells) with a cartilaginous template and is involved in the healing process of fractures.
Bone formation occurs at ossification centers, which are either primary or secondary:
primary ossification cent...
Article
Dentomaxillofacial Radiology
Dentomaxillofacial Radiology (DMFR) is the official journal of the International Association of Dentomaxillofacial Radiology (IADMFR) and is published by the British Institute of Radiology (BIR); it was first published in 1972. Its primary focus is head and neck imaging and oral radiology.
Its ...
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Biliary atresia
Biliary atresia is a congenital biliary disorder that is characterized by an absence or severe deficiency of the extrahepatic biliary tree. It is one of the most common causes of neonatal cholestasis, often causing cirrhosis immediately and leading to death and accounts for over half of children...
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Kaposiform hemangioendothelioma
Kaposiform hemangioendotheliomas are rare, locally invasive vascular tumors that often present in infancy, most commonly as an enlarging cutaneous mass 1,2. They are classified as distinct from tufted angiomas in the ISSVA classification of vascular anomalies. However, some consider it to be on ...
Article
Neuroblastoma
Neuroblastomas are tumors of neuroblastic origin. Although they may occur anywhere along the sympathetic chain, the vast majority arise from the adrenal gland.
They represent the most common extracranial solid childhood malignancy and are the third commonest childhood tumor after leukemia and b...
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...
Article
Ascites
Ascites (hydroperitoneum is a rare synonym) is defined as an abnormal amount of intraperitoneal fluid.
Terminology
Ascites (plural is the same word) tends to be reserved for relatively sizable amounts of peritoneal fluid. The amount has not been defined formally. It is noted physiologically, h...
Article
Crohn disease
Crohn disease, also known as regional enteritis, is an idiopathic inflammatory bowel disease characterized by widespread discontinuous gastrointestinal tract inflammation. The terminal ileum and proximal colon are most often affected. Extraintestinal disease is common.
Epidemiology
The diagnos...
Article
Echogenic fetal bowel
Echogenic fetal bowel is an observation in antenatal ultrasound imaging, in which fetal bowel appears to be brighter than it is supposed to be. It is a soft marker for trisomy 21 and has several other associations. When observed, it needs to be interpreted in the context of other associated abno...
Article
Hemimegalencephaly
Hemimegalencephaly is a rare congenital disorder of cortical formation with hamartomatous overgrowth of all or part of a cerebral hemisphere. This results from either increased proliferation or decreased apoptosis (or both) of developing neurons 2.
Epidemiology
Hemimegalencephaly is a cryptoge...
Article
Hirschsprung disease
Hirschsprung disease is the most common cause of neonatal colonic obstruction (15-20%). It is commonly characterized by a short segment of colonic aganglionosis affecting term neonates, especially boys.
Epidemiology
Hirschsprung disease affects approximately 1:5000-8000 live births. In short-...
Article
Ciliopathies
Ciliopathies refer to diseases due to malfunctioning cilia (singular: cilium). Cilia are organelles that are external extensions of the cell membrane. Cilia fall into two main types: primary (or immotile) cilia and motile cilia.
Clinical presentation
Primary cilia are found in virtually every...
Article
Meningocele
Meningoceles (also spelled meningocoele) are protrusions of the meninges through a defect or weak point in the skull or spine, usually involving the soft tissues beneath the surface of the skin. They are typically categorized into congenital, iatrogenic (e.g. following a craniotomy, sinus surger...
Article
Colonic transit study
The colonic transit study is an older technique to estimate colonic transit time.
Terminology
Various names are used for this type of study including shapes study, colon motility test, Sitz marker study and Transit-Pelletsmethod, and variations thereof.
Indications
In constipation, it can ...
Article
Midgut volvulus
Midgut volvulus is a complication of bowel malrotation usually seen in neonates and infants. Presentation is usually with proximal small bowel obstruction and bilious vomiting. Without prompt treatment, there is a real and significant risk of small bowel ischemia, significant associated morbidit...
Article
Neurofibroma
Neurofibromas are benign (WHO grade 1) peripheral nerve sheath tumors that are usually solitary and sporadic. There is, however, a strong association with neurofibromatosis type 1 (NF1), particularly for the plexiform subtype.
Neurofibromas are generally divided into five morphological forms 1...
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