Learning objectives
To illustrate common and rare congenital abnormalities of the upper limb and to review their terminology and classification.
To present the main embryofoetopathies,
genetic disorders and non genetic syndromes encountered in this pathology.
Background
Upper limbs malformations occur in approximatively 6.5 on 10000 neonates.
They are complex and knowledge of their radiological and clinical features is essential both for diagnosis and treatment planning.
Congenital upper limb malformations are divided into 1) failure of formation with transverse,
intercalary and longitudinal deficiencies (preaxial,
centroaxial,
postaxial),
2) failure of differenciation (synostosis,
syndactyly),
3) duplication (polydactyly) and 4) brachydactyly.
Sprengel deformity and congenital pseudarthrosis of the clavicle are also described.
This pictorial review is also an opportunity to cover the topics of clinodactyly,...
Imaging findings OR Procedure details
I- Failure of formation
Transverse deficiency (fig 1):
Transverse deficiency may be divided into amelia (absence of arm),
hemimelia (absence of forearm),
acheiria (absence of hand) and symbrachydactyly.
They are commonly sporadic,
due to a vascular accident during morphogenesis.
They may occur in syndromes such as tetraamelie,
Roberts syndrome (facial abnormalities),
Hanhart syndrome (hypoglossia-hypodactylia) and toxic embryofoetopathies.
Amniotic band syndrome is a differential diagnosis of transverse deficiency.
It represents a disruption or deformation sequence subsequent to annular bands of chorionic tissue encircling the limb.
It...
Conclusion
Despite advance in molecular diagnosis of congenital abnormalities,
information provided by clinical and radiological examination is still important before undergoing extensive genetic tests.
A systematic analysis of the upper limb will allow correct identification of the abnormality and will serve as a first step in the identification of syndromes and their differential diagnoses.
The second step is the integration of associated abnormalities in other organ systems.A genetic opinion for a child with congenital abnormalities would be of great value.
References
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Genetics of congenital hand malformations.
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Temtamy SA,
Aglan MS.
Brachydactyly.
Orphanet Journal of Rare Diseases.2008.
3: 15
Mallet J,
Bronfen C.
Malformations de la ceinture scapulaire chez l’enfant et l’adolescent.
Encyclopédie Médicochirurgicale,
Appareil locomoteur.
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15-202-A-10.
Norat F,
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Les clinodactylies: phalange delta et déformation de Kirner.
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