Items tagged “congenital anomalies”

20 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...
Case

Iniencephaly with diaphragmatic hernia

  Diagnosis almost certain
Paresh K Desai
Published 30 Jun 2009
71% complete
MRI
Case

High-riding jugular bulb

  Diagnosis certain
Roberto Schubert
Published 08 Jul 2011
83% complete
CT
Case

Congenital diaphragmatic hernia

  Diagnosis certain
Ahmad Thuaimer
Published 05 Aug 2013
72% complete
X-ray
Case

Glenoid dysplasia

  Diagnosis certain
Stan Buckens
Published 13 Jun 2014
90% complete
X-ray MRI
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 ...
Case

Complete tracheal ring

  Diagnosis certain
Paul Simkin
Published 08 Jul 2015
83% complete
CT
Case

Polyorchidism

  Diagnosis certain
Shailaja Muniraj
Published 09 Nov 2016
89% complete
MRI
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

Congenital extrahepatic portosystemic shunt classification

This congenital extrahepatic portosystemic shunt classification was proposed by Morgan and Superina in 1994 1: type 1: complete diversion of portal blood into the inferior vena cava with congenital absence of the portal vein 1a: superior mesenteric vein and splenic vein do not join to form a c...
Case

Cochlear hypoplasia

  Diagnosis certain
Leanne Chin
Published 04 Jun 2020
98% complete
MRI
Case

Unilateral choanal atresia

  Diagnosis certain
Abdulrahman Abdo Ali Abbas
Published 20 Jun 2020
92% complete
CT
Case

Bilateral congenital cataract

  Diagnosis probable
Ammar Haouimi
Published 01 Dec 2020
71% complete
MRI
Case

Apical lung herniation

  Diagnosis almost certain
Muhammad Shoyab
Published 05 Dec 2021
72% complete
X-ray
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...
Case

Madelung deformity

  Diagnosis certain
Ashesh Ishwarlal Ranchod
Published 19 Jul 2021
94% complete
X-ray
Case

Myelomeningocele

  Diagnosis certain
Bijay Kumar Yadav
Published 30 Aug 2023
95% complete
MRI
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...
Case

Vesicourachal diverticulum and calculus

  Diagnosis certain
Ashesh Ishwarlal Ranchod
Published 29 Oct 2023
95% complete
CT

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