CHIR12007

Clinical Assessment and Diagnosis

Portfolio Exercises Week 8

Self-directed learning:

The following conditions are congenital disorders or alterations in development that may have
clinical consequences and may mimic other conditions.

Investigate the following conditions. Include a description of the condition, relevant clinical history,
any associated clinical findings, associated clinical or systemic features and any additional
information you feel may be important as a chiropractor. (also incl reference(s))

Congenital Radioulnar Synostosis

 Rare condition caused by abnormal development of the forearm bones during the fetal
period, although the underlying cause of the developmental abnormality is not always
known
 The condition may be isolated (occur without other abnormalities) or it may be associated
with various other skeletal, cardiac, neurologic, or gastrointestinal abnormalities.
 When other abnormalities are present, the condition may be due to an underlying genetic
cause, including a variety of syndromes or chromosome abnormalities.
 Signs and symptoms depend on the severity of the abnormality and whether it is bilateral
 People with this condition often have limited rotational movement of the forearm
 Pain is not usually present until teenage years
 Type 1 – fusion involves 2-6cm of the area between the radius and ulna bones which is
closer to the elbow and the knobbly end of the radius that meets the elbow is absent
 Type 2 – fusion is farther from the elbow and there is dislocation of the radial head
 Both types there is a limitation of pronation and supination of the forearm, and in type 2
there is also a restriction of extension at the elbow

Ulna Minus Variant

 Ulnar variance refers to the relative lengths of the distal articular surfaces of the radius and
ulnar
 Negative ulnar variance is where the ulnar projects more proximally
 Can be caused by trauma or mechanical
o Distal radius/ulnar fractures with shortening and angulation
o Ligamentous injuries
o Surgical shortening of ulnar or radius
 Can be caused by congenital
o Madelung deformity/reverse madelung deformity
  Associated with kienbock disease and ulnar impingement syndrome

Madelung’s Deformity

 Due to premature closure or defective development of the ulnar third of the distal epiphysis
of the radius
 Results in a radial shaft that is bowed with increased interosseous space and dorsal
subluxation of the distal radioulnar joint
 Does not usually manifest until 10-14 years
 Can also be seen as an acquired consequence of trauma to the growth plate
 The presentation is with deformity, decreased grip strength and often with pain in the wrist
relating to ulnocarpal impaction.

Syndactyly

 One of the most common hereditary limb malformations depicting the fusion of certain
fingers and/or toes
 It may occur as an isolated entity or a component of more than 300 syndromic anomalies
 Can be unilateral, bilateral, symmetrical or asymmetrical
 Can be complete or partial; it can be simple, with only skin binding the fingers together, or
complicated, when there are fused bones, extra bones, or shared structures, such as nerves,
vessels, or nails
 The presence of syndactyly may be associated with syndromes or other conditions.
Syndactyly may present with skeletal manifestations including cleft hand, symbrachydactyly
and synopolydactyly.
 Syndactyly type 1 – a cutaneous fusion of the third and fourth fingers and/or second and
third toes. The webbing is usually to the nail base. Occasionally, other digits can be affected.
 Syndactyly type 2 – is complete cutaneous webbing of the third and fourth fingers, with a
partially duplicated digit hidden in the web. In the feet, there is syndactyly of the fourth and
fifth toes, with a sixth toe in the web.
 Syndactyly type 3 – is complete cutaneous webbing between the fourth and fifth fingers. the
middle phalanx of the fifth fingers may be hypoplastic. The feet are usually normal.
 Syndactyly type 4 – involves cutaneous syndactyly of the third and fourth fingers with
synostosis of the metacarpals of digits 4 and 5. In the foot, there is syndactyly of toes 2 and 3
and metatarsal 4 and 5.

Acro-osteolysis

 Acro-osteolysis is an oseolysis of the distal phalanges of the hands and feet and can affect
the terminal tuft or the shaft of the distal phalanx.
 It is often associated with distal digital ischemia, digital calcinosis, or severe sensory
neuropathy.
 Acro-osteolysis has been associated with a heterogeneous group of disorders, including
occupational activities, infections, rheumatic disorders (systemic sclerosis, psoriatic
arthritis), endocrinopathies, genetic disorders, and lysosomal storage disorders.
 Plain radiography is the gold standard for the detection of acro-osteolysis.
 Acro-osteolysis refers to lytic changes in the distal phalanges. There is a familial form, an
idiopathic form with onset in early adult life, and an occupational variant related to exposure
to vinyl chloride
 Cutaneous lesions have been described in only some idiopathic cases, in contrast, they are a
characteristic feature occupational acro-osteolysis. There are sclerodermoid plaques on the
hands accompanied by Raynaud’s phenomenon. With altered work practices, occupational
acro-osteolysis should become a historical disease
 The dermis is thickened, with swollen collagen bundles and decreased cellularity. There is
usually no significant inflammation and there is no calcinosis. Elastic fibers are often
fragmented.