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CHIR12007

Clinical Assessment and Diagnosis

Portfolio Exercises Week 8

th
Sat 9 May 2020

Graham Healy
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))

A. Congenital Radioulnar Synostosis

By Kinderradiologie Olgahospital Klinikum Stuttgart - Own work, CC BY-SA 3.0,

https://commons.wikimedia.org/w/index.php?curid=32806749

Congenital radioulnar synostosis is a rare condition in which there is an

abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at
birth.[1] The condition is present in both arms (bilateral) in approximately 60% of

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cases.[2] Signs and symptoms depend on the severity of the abnormality and
whether it is bilateral; people with the condition often have limited rotational
movement of the forearm.[1][2] Pain is usually not present until the teenage
years.[2] There are 2 types of radioulnar synostosis: type 1 and type 2. In type 1,
the fusion involves 2-6 cm of the area between the radius and ulna bones which
is closer to the elbow and the knobby end of the radius that meets the elbow is
absent (radial head). In type 2, the fusion is farther from the elbow and there is
dislocation of the radial head. Both types result in a limitation of inward roll
(pronation) and outward roll (supination) of the forearm, and in type 2 there is
also a restriction of extension at the elbow.[3] Congenital radioulnar synostosis is
due to abnormal fetal development of the forearm bones, but the underlying
cause is not always known. It is sometimes a feature of certain chromosome
abnormalities or genetic syndromes.[1][2][3] Some cases appear to be inherited in
an autosomal dominant manner.[3] Treatment may be conservative or involve surgery
depending on the severity of the abnormality and the range of motion. [1]

Last updated: 7/11/2017

https://rarediseases.info.nih.gov/diseases/10876/congenital-radioulnar-synostosis

Congenital proximal radio-ulnar synostosis.

Natural history and functional assessment.
Cleary JE, Omer GE Jr.
Abstract
We evaluated the cases of twenty-three patients with thirty-six congenital proximal radio-ulnar
synostoses who had been followed between 1938 and 1984. None of the patients had had any
attempt at surgical correction or any ipsilateral congenital anomalies. Emphasis was placed on
analyzing the natural history of the lesion in these patients who had not been operated on, and
on determining the effect of a fixed position of the forearm on function. Ten patients had
unilateral and thirteen, bilateral synostosis. Their mean age when last examined was twenty-two
years (range, three to fifty years). Eight patients were female and fifteen, male. The forearms
were fixed in an average of 30 degrees of pronation. The position of the forearm was not found to
be related to subjective functional limitations, employment status, or the results of the hand-
function test of Jebsen et al. Most patients had few or no functional limitations, and were
employed in jobs that demanded extensive use of the forearm. Contrary to the findings of other
studies, we observed four distinct radiographic patterns based on the presence of an osseous
synostosis and the position of the radial head. However, we noted no relationship between any of
these patterns and function. We concluded that operative treatment of congenital radio-ulnar
synostosis is rarely indicated, that less emphasis should be placed on the single factor of the
position of the forearm, and that objective functional tests should be included in the assessment
of these patients
https://www.ncbi.nlm.nih.gov/pubmed/3980498

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Ulna Minus Variant

Carpal ligamentous disruptions and negative ulnar variance.

https://images.app.goo.gl/a89NynmyWYrLTa7L6

Voorhees DR, Daffner RH, Nunley JA, Gilula LA.

Abstract
Negative ulnar variance is a condition in which the ulna is relatively shorter than the radius at the
carpus. It was found in 21% of 203 normal wrists. We have observed an increased incidence (49%) of
this anomaly in patients with carpal ligamentous instabilities (dorsiflexion instability, palmar flexion
instability, scapholunate dissociation with rotary luxation of the scaphoid, and lunate and perilunate
dislocations). While the reasons for this association have yet to be adequately delineated, the
presence of a negative ulnar variant may serve as an impartial clue to the presence of ligamentous
instability. Many carpal instabilities present with subtle radiographic findings requiring careful
evaluation of radiographs. Patients with negative ulnar variance and histories suggestive of
ligamentous instability should undergo careful radiologic evaluation to assure early diagnosis of carpal
disruption.
https://www.ncbi.nlm.nih.gov/pubmed/4001966

Between 1997 and 2006, radiographs of 66 scaphoid fractures were retrospectively reviewed to
evaluate ulnar variance. Twenty-one (31.8%) patients had an 'ulna neutral' wrist, six (9.1%) had
an 'ulna plus' and 39 (59.1%) had an 'ulna minus' wrist. The mean ulnar variance was -1.3 (SD
1.8) mm (range -5.5, 2.5). We observed a significant difference in the distribution of ulnar
variance (P < 0.00001) and in the proportion of cases with ulna minus (OR = 5.0; 95% CI: 2.7,
9.3) compared to previous publications.
https://www.ncbi.nlm.nih.gov/pubmed/20007423

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Madelung’s Deformity

https://en.wikipedia.org/wiki/Madelung%27s_deformity

Elisa J. Knutsen and Charles A. Goldfarb

Author information Article notes Copyright and License information Disclaimer

Go to:

Introduction

Madelung’s deformity was first described by Malgaigne in 1855 however carries Madelung’s name from his
description in 1878 [1]. The deformity is caused by an abnormal growth arrest of the palmar-ulnar distal radius
physis. In addition to the abnormal growth, there is an abnormal palmar ligament tethering the lunate to the
palmar-ulnar radius epiphysis and metaphysis (Vickers’ ligament) that is thought to contribute to the deformity
[11]. The deformity is characterized by a prominent dorsal subluxation of the ulnar head and palmar sag of the
hand and wrist with a shortened forearm. Patients present with wrist pain as well as concerns about the aesthetic
deformity.

Go to:

Clinical Features

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Girls are more often affected more than boys. The disorder is usually present bilaterally with asymmetric
severity and presents between the ages of 6 and 13 years. The deformity is likely present for years prior to
diagnosis, but as it progresses with growth, it becomes noticeable. It is most often diagnosed at the onset
of adolescence when activity-related diffuse wrist pain or the abnormal appearance of the wrist prompts
intervention. Studies have shown that either the pain or the appearance of the wrist can be the primary
complaint. Patients also have decreased strength and range of motion in pronation, supination, and wrist
extension in particular [4, 9, 11].

Abstract
MADELUNG'S deformity of the wrist is a rare condition, usually bilateral, developing at the distal
end of the forearm of young individuals between the ages of 8 and 20 years—80 per cent of such
deformities appear between the ages of 11 and 15 years. The deformity is essentially an
anterolateral curvature of the distal third of the radius, with dorsal prominence of the joint end of
the ulna. Contrary to early descriptions, it is not associated with an irreducible dislocation of the
wrist. The lesion progresses slowly and by the end of one or two years the deformity is complete.
During the active developmental stage, pains may or may not be present. If there is discomfort
from pain or ache, it may be aggravated by forced movement, chiefly by extension.

The anatomical changes are best seen in roentgenograms which include the hand and the entire
forearm. There is bowing of the lower third of the radius, usually dorsal and lateral. The articular
surface is tilted medially toward the volar side and slightly rotated inward and backward, and the
carpus is thrown forward. The increase of the axial curve of the radius, especially along its
medial aspect, results in marked bowing with shortening of the length of the bone. The ulna is not
primarily affected, but, due to the shortening of the radius, the distal joint end of the ulna is made
to override the carpus and it becomes unduly prominent, as is demonstrated in lateral views. In
96 per cent of the cases this overriding takes place dorsally and the carpus is displaced
anteriorly. Rarely, as in Stetten's case, the reverse occurs. The relative overgrowth of the ulna is
of the greatest importance and very often gives rise to the first clinical manifestation of the
deformity. Especially characteristic is the widening of the interosseous space due to the
exaggeration of the normal flexor concavity of the distal end of the radius. The arrangement of
the carpal bones presents more or less alteration, chiefly as regards the static relationship
between the distal end of the forearm and the proximal carpal series, while the individual bones
mostly remain normal in shape and outline. Schnek and Melchior have drawn attention to more
or less marked changes in the declination angle of the joint surface of the radius with a
corresponding pyramidal arrangement of the proximal carpal bones (Figs. 1 and 2). Köhler points
out that instead of the normal slightly curved arrangement of the carpals, paralleling the joint fork
of the forearm, there is a V-shaped arrangement with the os lunatum forming the vertex of the
triangle. This is mainly observed in cases of bilateral true Madelung's deformity. Recent papers
have confirmed this finding and have further pointed out the presence of low-grade changes of a
similar nature in the contralateral joint in cases in which clinically the deformity was only
unilaterally manifest.

Article History
Published in print: Nov 1936
https://pubs.rsna.org/doi/10.1148/27.5.594

Syndactyly
Webbed fingers

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https://en.wikipedia.org/wiki/Syndactyly

1
Adrian E. Flatt, MD, FRCS

Author information Copyright and License information Disclaimer

This article has been cited by other articles in PMC.

Webbing of the digits, or syndactyly, is not caused by the fingers sticking together in the womb; rather, it is
caused by failure, during the sixth to eighth weeks of intrauterine life, of the usual longitudinal interdigital
necrosis that normally separates the fingers. This “webbing” is the most common abnormality of the newborn
hand. It happens either as an isolated anomaly or as part of a syndrome. When it occurs alone it is always
inherited as an autosomal-dominant disorder. Five types of syndactyly are generally recognized:

 Type 1: Zygodactyly. This is the most common form of syndactyly, occurring between the long and
ring fingers.

 Type 2: Synpolydactyly. This also involves the long and ring fingers but includes a duplication of the
ring finger between the fingers.

 Type 3: Ring-small syndactyly. This is usually bilateral, and occasionally the distal phalanges are
fused. There may be only a rudimentary middle phalanx in the small finger.

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 Type 4: Haas-type syndactyly. In this rare type, described by Haas in the American Journal of
Surgery in 1940, there is a complete syndactyly of all digits. Occasionally a sixth metacarpal and
phalanges may be included in the cup-shaped hand.

 Type 5. In this rare type, both the long and ring fingers and second and third toes are syndactylized.
The fourth and fifth metacarpals and metatarsals may be fused

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1200697/

Causes
Syndactyly occurs while a baby is still developing in the womb. During the
sixth to eighth week of development, an infant’s fingers and toes separate.
Syndactyly occurs when the digits fail to fully separate into individual fingers
and toes.
This congenital difference is often passed down through families. There is a
family history in 10 to 40 percent of cases of syndactyly. In rare cases,
syndactyly is associated with other genetic abnormalities and syndromes,
including Poland syndrome, Apert syndrome and Carpenter syndrome.
https://www.chop.edu/conditions-diseases/syndactyly

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Acro-osteolysis
Acro-osteolysis.

https://en.wikipedia.org/wiki/Acroosteolysis
1 1 1 2
Botou A , Bangeas A , Alexiou I , Sakkas LI .
Author information
Abstract
Acro-osteolysis is an osteolysis of the distal phalanges of the hands and feet and can affect the
terminal tuft or the shaft of the distal phalanx (transverse or band acro-osteolysis). 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.
KEYWORDS:
Digital ischemia; Infection; Psoriatic arthritis; Systemic sclerosis; Transverse acro-osteolysis
https://www.ncbi.nlm.nih.gov/pubmed/27796661

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A 71-year-old man hospitalised with tracheobronchitis, complained of hand discolouration. His hands
showed the three-phases of skin colour changes (white, blue, and red) and a diagnosis of Raynaud's
syndrome was established. When questioned about the first time he had these symptoms, the patient
noted that they had been recurrent for about 20 years. He had relatively short fingers, particularly of
the thumbs, and no bone was palpable in most of the distal phalanges (figure A). Radiography of his
hands showed bone resorption of almost all terminal phalanges of both hands, so-called acro-
osteolysis (figure B). Immunological investigations and clinical features excluded several diseases
commonly associated with Raynaud's syndrome. Nailfold capillaroscopy was done and showed no
changes, supporting the diagnosis of primary Raynaud's syndrome. The most common causes of
acro-osteolysis include scleroderma, psoriatic arthritis, occupational causes, injury (eg, thermal burn),
and hereditary syndromes (eg, Hadju-Cheney syndrome). In patients with long-standing primary
Raynaud's syndrome, chronic vascular deficiency may lead to acro-osteolysis.
https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(12)60275-X/fulltext

References
Acroosteolysis. (2020). Retrieved 8 May 2020, from
https://en.wikipedia.org/wiki/Acroosteolysis

Botou A, e. (2020). Acro-osteolysis. - PubMed - NCBI. Retrieved 7 May 2020, from

https://www.ncbi.nlm.nih.gov/pubmed/27796661

Congenital radioulnar synostosis | Genetic and Rare Diseases Information Center

(GARD) – an NCATS Program. (2020). Retrieved 7 May 2020, from
https://rarediseases.info.nih.gov/diseases/10876/congenital-radioulnar-synostosis

Ferreira, I., & Domingues, V. (2012). Acro-osteolysis. The Lancet, 380(9845), 916. doi:
10.1016/s0140-6736(12)60275-x

Image: Ulnar variance. Drawings of the wrist show neutral ulnar variance ... (2020).
Retrieved 8 May 2020, from https://images.app.goo.gl/a89NynmyWYrLTa7L6

Jr, C. (2020). Congenital proximal radio-ulnar synostosis. Natural history and functional
assessment. - PubMed - NCBI. Retrieved 9 May 2020, from
https://www.ncbi.nlm.nih.gov/pubmed/3980498

Madelung's deformity. (2020). Retrieved 8 May 2020, from

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https://en.wikipedia.org/wiki/Madelung%27s_deformity

Madelung's Deformity of the Wrist | Radiology. (2020). Retrieved 9 May 2020, from
https://pubs.rsna.org/doi/10.1148/27.5.594

Nazerani, S., Kalantar Motamedi, M., Pirzeh, A., Vahedian, J., Nazerani, T., & Nazerani, T.
(2020). Surgically Induced Digital Distal Syndactyly for Prevention of Digital Growth
Deformities Around the Joints: A New Technique. Retrieved 7 May 2020, from

Radioulnar synostosis. (2020). Retrieved 8 May 2020, from

https://en.wikipedia.org/wiki/Radioulnar_synostosis

Ramos-Escalona J, e. (2020). Ulnar variance and scaphoid fracture. - PubMed - NCBI.

Retrieved 9 May 2020, from https://www.ncbi.nlm.nih.gov/pubmed/20007423

Syndactyly. (2020). Retrieved 8 May 2020, from https://en.wikipedia.org/wiki/Syndactyly

Syndactyly | Children's Hospital of Philadelphia. (2020). Retrieved 9 May 2020, from

https://www.chop.edu/conditions-diseases/syndactyly

The Anatomy of the Ulna. (2020). Retrieved 7 May 2020, from

https://www.verywellhealth.com/ulna-anatomy-4628288

Voorhees DR, e. (2020). Carpal ligamentous disruptions and negative ulnar variance. -
PubMed - NCBI. Retrieved 7 May 2020, from
https://www.ncbi.nlm.nih.gov/pubmed/4001966

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