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Case Studies 26
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294 Clinical Guides


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Acrania
The terms acrania and exencephaly refer to the same condition, whereby there is congenital absence of the bony calvarium, resulting in exposure of the underlying cerebrum. The condition arises from incomplete rostral neurulation, specifically defective closure...
reviewed   01 April 2011   

Achondroplasia
Achondroplasia is the most common chondrodysplasia occurring with a birth frequency of about 1 in 60,000. The term achondroplasia is a misnomer because cartilage is formed in this condition although in reduced amounts. More than 80% of cases are sporadic...
reviewed   26 January 2011   

Amniotic Sheet
An amniotic sheet is due to a redundancy of the amnion and chorion. The location of an amniotic sheet within the uterus is highly variable. In one study the mean length and width of 79 amniotic sheets were 4.0 + 1.5 3 cm and 0.46 + 0.13 cm, respectively....
Dr Lyndon Hill reviewed   07 January 2011   

Aorta - Interrupted Arch
In this condition, the aortic arch is completely interrupted between the ascending and descending limbs. It can occur as an isolated defect or as a component of a complex malformation. The site of interruption is usually between the second and third head vess...
Dr Lisa Hornburger reviewed   01 January 2011   

Aorta - Coarctation
Tricuspid dysplasia can be difficult to distinguish from Ebstein's malformation, in fact the two overlap each other in terms of anatomical findings. The differentiation is not important. The displaced tricuspid valve cusps can be difficult to find in a severe...
Dr Lindsey Allan reviewed   01 January 2011   

Antley-Bixler Syndrome
The Antley-Bixler syndrome is characterised by craniosynostosis, radiohumeral synostosis and femoral bowing. Most infants die in the first months of life from respiratory complications. Mode of inheritance: Autosomal recessive Type: usually lethal in...
Reviewed   01 January 2011   

Anophthalmia
Anophthalmia is the apparent absence of the globe in an orbit that otherwise contains normal adnexal elements. The eyelids are structurally normal but are shorter. The birth prevalence is 0.60 per 10,000. Anophthalmia may occur because of lack of development (...
Rosa De Vermette RDMS RDVS reviewed   01 January 2011   

Annular Pancreas
Annular pancreas exists in the presence of about 20% of cases of duodenal atresia. The annular portion of the pancreas surrounds the second part of the duodenum and causes obstruction. It is a rare condition which may only present following delivery. Because...
Dr Bernard Benoit reviewed   01 January 2011   

Anencephaly
Anencephaly results from lack of closure of the cephalic end of the neural tube (rostral or cephalic neuropore) at approximately 3-4 weeks of embryological development. Normal migration of mesenchymal tissue in this region does not therefore occur, leading to...
Reviewed   01 January 2011   

Aortic Valve - Atresia
This is present when the aorta is completely non-patent. It usually occurs when the aorta is normally connected to the left ventricle in association with mitral atresia, when it is known as the hypoplastic left heart syndrome. This is one of the most common ma...
Dr Gurleen Sharland, Professor Lindsey Allan reviewed   01 January 2011   

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The ASUM Online Clinical Handbook is presented as an educational aid for experienced practitioners. It is the responsibility of the individual practitioner to determine how the information should be applied to individual cases.


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