Items tagged “congenital”

74 results found
Article

Polyorchidism

Polyorchidism, also known as supernumerary testes, refers to the presence of more than two testes and is a very rare congenital anomaly. The supernumerary testis can be usually located inside the scrotum (75% of the patients) or less commonly in the inguinal canal, the retroperitoneum, or the ab...
Article

Congenital radial head dislocation

Congenital radial head dislocation is the most common congenital elbow abnormality. It can occur in isolation, or more commonly may be associated with other conditions or syndromes. Epidemiology Overall, congenital radial head dislocation is rare 2. Clinical presentation Congenital radial he...
Case

Congenital radial head dislocation

 Diagnosis almost certain
Aparna Srinivasa Babu
Published 07 May 2014
44% complete
X-ray
Article

Sphenoid wing dysplasia

Sphenoid wing dysplasia is a characteristic but not pathognomonic feature of neurofibromatosis type 1 (NF1), it can also occur in isolated cases. Epidemiology Sphenoid wing dysplasia is seen in 5-10% of cases of NF1 and is one of the diagnostic criteria of NF1 5,6. Clinical presentation Puls...
Article

Pulmonary atresia with intact interventricular septum

Pulmonary atresia with intact interventricular septum (PA-IVS) is a subtype of pulmonary atresia that presents as cyanotic congenital heart disease.  Pathology PA-IVS is the combination of obstruction of the pulmonary outflow tract from pulmonary valve atresia without a ventricular septal defe...
Article

Mullerianosis

Mullerianosis is a rare type of choristoma, in which normal Mullerian-derived structures (endometrium, endosalpinx, and endocervix) are ectopically located in another organ (e.g. the bladder) through a developmental anomaly. Mullerianosis differs from endometriosis in that at least two types of ...
Case

Left lung aplasia

 Diagnosis certain
Henry Knipe
Published 21 Nov 2014
89% complete
X-rayNuclear medicineCT
Article

Congenital cataract

Congenital cataracts are a major cause of blindness with early detection the most important factor in reducing impact on future vision.  Epidemiology Incidence is ~3 per 100,000 in the United Kingdom 1. Although the incidence tends to be higher in areas with increased rates of congenital infec...
Case

Scimitar syndrome

 Diagnosis certain
Henry Knipe
Published 05 Mar 2016
84% complete
CTX-ray
Article

Congenital pseudoarthrosis of the clavicle

Congenital pseudoarthrosis of the clavicle is a rare condition, which typically presents as an isolated anatomical variant.  Clinical presentation Usually presents as a midclavicular swelling in the neonate or young child 1.  Pathology Congenital pseudoarthrosis of the clavicle is more commo...
Case

Pyelonephritis in a solitary kidney

 Diagnosis certain
Henry Knipe
Published 17 Dec 2015
98% complete
CT
Article

Hemihyperplasia

Hemihyperplasia, also known as hemihypertrophy, is asymmetry in size between the right and left of the body, more than can be attributed to normal variation. Terminology Hemihyperplasia is more scientifically correct than hemihypertrophy as the cells are hyperplastic rather than hypertrophied ...
Article

Norrie disease

Norrie disease is a rare X-linked inherited cause of congenital bilateral blindness. It can present with a retinal mass (pseudoglioma) and cataracts. It is associated with developmental delay and hearing loss. 
Case

Repaired aortic coarctation

 Diagnosis probable
Kylie Lopes Floro
Published 14 May 2016
66% complete
X-ray
Case

Transposition of great vessels

 Diagnosis certain
Abdallah Al Khateeb
Published 11 May 2016
87% complete
DiagramCT
Case

Bilateral cleft palate

 Diagnosis certain
Sergio Uribe
Published 05 Jul 2016
75% complete
X-ray
Case

Central polysyndactyly

 Diagnosis almost certain
Nafisa Shakir Batta
Published 11 Aug 2016
66% complete
X-ray
Case

Pituitary duplication with nasopharyngeal teratoma and cleft palate

 Diagnosis certain
Bruno Lorensini
Published 25 Aug 2016
95% complete
MRIAnnotated imageCT
Case

Lamina papyracea dehiscence

 Diagnosis almost certain
Shailaja Muniraj
Published 27 Oct 2016
74% complete
CT
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...