Items tagged “congenital anomaly”

42 results found
Article

Congenital ossicular anomalies

Congenital anomalies of the ossicles are most frequently associated with external ear abnormalities also, although they can occur in isolation.  Clinical presentation These anomalies result in conductive hearing loss. Pathology When bilateral, they are most frequently genetic with autosomal ...
Article

Phrygian cap

Phrygian caps are the most common congenital anatomic variant of the gallbladder. It denotes folding of the fundus back upon the gallbladder body and is asymptomatic with no pathological significance. Radiographic findings A Phrygian cap may be identified on ultrasound, multiphase CT/MRI or ch...
Case

Autosomal dominant polycystic kidney disease with extensive hepatic involvement

 Diagnosis probable
A.Prof Frank Gaillard
Published 17 Dec 2008
53% complete
CT
Case

Hydrocoele of canal of Nuck

 Diagnosis possible
Dr Paresh K Desai
Published 21 Mar 2009
47% complete
Ultrasound
Case

Congenital diaphragmatic hernia

 Diagnosis certain
Dr Mohd Imran
Published 25 Oct 2009
94% complete
X-ray
Case

Horseshoe kidney

 Diagnosis almost certain
Dr Ruslan Asadov
Published 06 Nov 2009
48% complete
CT
Case

Acrania-exencephaly sequence

 Diagnosis almost certain
Dr Mohd Imran
Published 23 Nov 2009
69% complete
X-rayUltrasound
Case

Proximal femoral focal deficiency

Note the abnormal...
 Diagnosis certain
Dr Hani Salam
Published 25 Feb 2010
69% complete
X-ray
Article

Proximal focal femoral deficiency

Proximal femoral focal deficiency is a congenital partial absence of the proximal end of the femur with shortening of the entire lower limb. The diagnosis and classification have been based mainly on plain radiograph findings. This method does not permit definite classification during the first ...
Case

Talipes equinovarus (clubfoot)

Talipes equinovar...
 Diagnosis certain
Dr Hani Salam
Published 22 Apr 2010
57% complete
X-ray
Case

Poland syndrome

 Diagnosis certain
Dr Alexandra Stanislavsky
Published 22 Aug 2010
64% complete
X-rayCT
Case

Absent thumb

 Diagnosis certain
Dr Hani Salam
Published 25 Aug 2010
69% complete
X-ray
Article

Absent thumb

An absent thumb can have many associations. They include: Fanconi anemia (pancytopenia-dysmelia syndrome) Franceschetti syndrome Holt-Oram syndrome phocomelia (e.g. thalidomide embryopathy) Poland syndrome (pectoral muscle aplasia and syndactyly) Rothmund-Thomson syndrome Seckel syndrome ...
Case

Triphalangeal thumb

 Diagnosis certain
Dr Hani Salam
Published 25 Aug 2010
66% complete
X-ray
Article

Triphalangeal thumb

Triphalangeal thumb is considered a form of pre-axial polydactyly. Epidemiology Triphalangeal thumbs have an incidence of 1 in 25,000 7.  Pathology A triphalangeal thumb, as the name implies, has three phalanges instead of the usual two. There is an autosomal dominant genetic transmission 8....
Case

Truncus arteriosus

 Diagnosis almost certain
Dr Hani Salam
Published 05 Sep 2010
60% complete
X-ray
Case

Butterfly vertebra

 Diagnosis certain
Dr Erik Ranschaert
Published 13 Sep 2010
88% complete
X-ray
Case

Sacral agenesis

 Diagnosis certain
Dr Paresh K Desai
Published 21 Sep 2010
69% complete
X-ray
Case

Discoid meniscus

 Diagnosis certain
Dr Hani Salam
Published 21 Oct 2010
65% complete
MRI
Case

Discoid meniscus

 Diagnosis certain
Dr Hani Salam
Published 01 Nov 2010
68% complete
MRI

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