radial ray defects
description
radial ray abnormalities are encountered in many differing disorders. aplasia or hypoplasia of the radial ray may occur as an isolated defect or as a syndromic component, some of which are genetic in origin. frequently the hand is radially deviated (radial clubhand). isolated radial clubhand, however, is not part of a recognized syndrome although this does not exclude the presence of other anomalies (eg: scoliosis, heart and renal anomalies). most cases of isolated radial clubhand are of a sporadic, non-genetic origin although a few familial cases have been reported.
diagnosis
the sonographic findings in radial ray defects will depend on the specific disorder encountered and the severity of the lesion. the defect may be unilateral or bilateral with an absent or hypoplastic radius. the ulna is always present, however, but may be shorter (distal hypoplasia). joint abnormalities are often seen at the level of the wrist with the hand being radially deviated, lying perpendicular to a short, underdeveloped forearm (radial clubhand). the thumb may or may not be present, be normally developed or hypoplastic or have three phalanges (triphalangeal thumb). the metacarpals can also be affected. it may be difficult to differentiate sonographically between radius and ulna in the presence of a single forearm bone; the latter has a wider proximal end and typically a slight angulation between the upper and middle thirds.
differential diagnosis
congenital amputations may involve the forearm and hand but in this case the radius and ulna are usually equally involved (transverse limb defects). amniotic bands are asymmetrical and unilateral. the mesomelic dysplasias have shortening of the forearm with occasional hand abnormalities but both radius and ulna are affected, and commonly, the lower leg too. ulnar ray defects also occur in which the radius and thumb are always present.
sonographic features
absence or hypoplasia of the radius
radial deviation of the hand
normal thumb
triphalangeal thumb
absent or hypoplastic thumb
presence of the ulna
other anomalies depending on the specific syndrome encountered
associated syndromes
- aase (blackfan-diamond syndrome)
- acro-renal
- baller-gerold
- brachmann de lange
- fanconi
- fetal valproate exposure
- holt -oram
- ladd (levy-hollister)
- nager acrofacial dysostosis
- oculo-auriculo-vertebral syndrome
- poland
- roberts- sc phocomelia
- seckel
- thrombocytopenia absent radii
- townes-brocks
- trisomy 13
- trisomy 18
- vater /vacterl association
references
goldberg mj in: the dysmorphic child. an orthopaedic perspective raven press: p 298-323
goldberg mj in: the dysmorphic child. an orthopaedic perspective raven press: new york
taybi h, lachman rs in: radiology of syndromes, metabolic disorders and skeletal dysplasias, 4th ed mosby publishing yearbook