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294 Clinical Guides


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Acheiria
Acheiria is defined as the absence of a hand or hands. It has been reported in association with fetal hydantoin syndrome as well as in combination with other anomalies. It is not a difficult diagnosis to make on ultrasound provided that an adequate view of...
Lynn Salvador reviewed   01 January 2011   

Achondrogenesis Type 1
Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by severe micromelia, a short trunk with barrel-like chest, a distended abdomen and a disproportionally large head. Both endochondral and membranous ossification are impaired. Speci...
Dr Karl Gloning   01 January 2011   

Achondrogenesis Type 11
Achondrogenesis type II (Langer-Saldino) is an autosomal dominant disorder with severe micromelia, a short trunk with barrel-shaped thorax, distended abdomen and a disproportionately large head. It has been postulated that achondrogenesis type II and hyp...
Dr Harm-Gerd Blass   01 January 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   

Achondroplasia - Heterozygous
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 sporadi...
pp   01 January 2011   

Achondroplasia - Homozygous
Homozygous achondroplasia can occur with a risk of 1:4 (25%) in the offspring of two parents with heterozygous achondroplasia. The condition is usually fatal in the perinatal period because of reduced thoracic size and consequent severe respiratory compromise...
pp   01 January 2011   

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   

Acrocephalosyndactyly
Acrocephalosyndactyly is also known as Apert syndrome, and is one of the craniosynostosis syndromes. It is inherited in autosomal dominant fashion, although the vast majority of cases represent fresh mutations.Length and weight tend to be increased at birth, w...
Marion Pilotte RDMS reviewed   01 January 2011   

Acrocephaly
Premature fusion of coronal and sagittal sutures usually leads to a tall, tower-like skull which is known as turricephaly. Fusion of all sutures produces a tall pointed skull known as acro- or oxy-cephaly. Turri-, acro- and oxy-cephaly are associated with a ce...
DrHarm-Gerd Blaas   01 January 2011   

Acrofacial Dysostosis - Miller Syndrome
There are at least 2 conditions that are described as acrofacial dysostoses:- Nager syndrome (preaxial acrofacial dysostosis) and Miller syndrome (also known as Wildervanck-Smith syndrome, Genee-Wiedemann syndrome and postaxial acrofacial dysostosis). The name...
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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