Articles

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More than 200 results
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Apodia

Apodia is a rare non-syndromic transverse terminal lower limb defect characterized by the congenital absence of the foot and ankle. The remainder of the lower limb is present including both the tibia and fibular epiphyses. It can be unilateral or bilateral. See also acheiria hemimelia
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Intestinal malrotation

Intestinal malrotation is a congenital anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. In incomplete rotation, the midgut does not rotate more than 180°, thus cephalad (prearterial or proximal) portion of the midgu...
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VACTERL association

VACTERL is an acronym that describes a non-random constellation of congenital anomalies. It is not a true syndrome as such and is equivalent to the VATER anomaly. Epidemiology The estimated incidence is 1 in 10,000-40,000 births 3. Associations Several conditions have features in common with...
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Biotin deficiency

Biotin deficiency is very rare. Biotin is a vitamin which acts as an enzymatic cofactor with a key role in energy production and the synthesis of fats. Biotin is present in a diverse range of cereals, nuts, seeds and eggs. Hence, true deficiency is unusual. It has been observed in the following ...
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Smith-Magenis syndrome

Smith-Magenis Syndrome (SMS) is a rare genetic syndrome which results from an interstitial deletion in chromosome 17p11.2. Terminology The condition is known by several other names which are all similar variants related to its underlying karyotype: 17p deletion syndrome, 17p11.2 monosomy, chro...
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Microcephaly

Microcephaly (plural: microcephalies) is a descriptive term meaning a small head associated with numerous disorders of diverse etiology. It is usually associated with microencephaly (plural: microencephalies) (small brain). For the purpose of this article, the two terms will be used interchangea...
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Radiographic Atlas of Skeletal Development of the Hand and Wrist

The Radiographic Atlas of Skeletal Development of the Hand and Wrist by WW Greulich and SI Pyle is a classic radiological text that was first published in 1950. Its second edition was released in 1959. Although an old text, which has been reprinted multiple times over the intervening years, many...
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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 ...
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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 most common childhood tumor after leukemia and...
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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...
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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...
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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...
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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...
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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-...
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Hemimegalencephaly

Hemimegalencephaly is a rare congenital disorder of cortical formation characterized by hamartomatous overgrowth of all or part of a cerebral hemisphere. This overgrowth results from either increased proliferation or decreased apoptosis (or both) of developing neurons 2. Epidemiology Hemimegal...
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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...
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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...
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Brainstem glioma

Brainstem gliomas are primary tumors most frequently involving the pons and are typically diagnosed in children. Terminology Brainstem glioma is not a formal diagnosis but rather a catch-all term encompassing a heterogeneous group that varies greatly in histology and prognosis. It was useful, ...
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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...