Items tagged “congenital anomalies”
7 results found
Article
Second branchial cleft cyst
Second branchial cleft cysts are a cystic dilatation of the remnant of the second branchial cleft (see branchial apparatus), and along with second branchial fistulae and sinuses accounts for 95% of all branchial cleft anomalies.
Clinical presentation
Although a congenital abnormality, they ten...
Article
CLOVES syndrome
CLOVES syndrome is an acronym denoting a rare condition consisting of:
Congenital Lipomatous Overgrowth
Vascular malformations
Epidermal nevi
Skeletal/Scoliosis/Spinal anomalies
Terminology
Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasizing the skeletal ...
Article
Congenital portosystemic shunt
Congenital portosystemic shunts are rare, extrahepatic or intrahepatic, anatomical abnormalities shunting blood from the portal venous system to the systemic venous system and, thus, avoiding passage through the hepatic acinus.
Terminology
The term “portosystemic shunt” can be used to refer t...
Article
Congenital intrahepatic portosystemic shunt classification
This congenital intrahepatic portosystemic shunt classification was proposed by Park et al. in 1990 1:
type 1: single large vessel of constant diameter connecting the right portal vein to the inferior vena cava
type 2: localized, peripheral shunt with one or more communications in a single hep...
Article
Morgan and Superina classification of congenital extrahepatic portosystemic shunts
The Morgan and Superina classification of congenital extrahepatic portosystemic shunts is based on the absence (type 1) or presence (type 2) of intrahepatic portal blood supply 2.
Usage
This classification system is widely used (c. 2020) 2, although there is evidence that all congenital extrah...
Article
Megalocornea
Megalocornea is a rare bilateral congenital ocular defect characterized by a corneal diameter of more than 13 mm with the deep anterior chamber and normal intraocular pressure 1-3.
Epidemiology
Megalcornea is associated with Chordin-like 1 (CHRDL1) gene mutation 1,2. It is associated with mult...
Article
Classification of Ebstein anomaly
There are several classification systems for Ebstein anomaly, the most commonly used are the Carpentier classification (anatomical classification) and the Celermajer index or the Great Ormond Street Echocardiography (GOSE) score for neonates.
These classification systems are crucial for determi...
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