Congenital malformations - Edocr

CHAPTER 47 ARTHROGRYPOSIS 323
in other body areas; and (3) those with limb involvement
plus severe central nervous system
(CNS) dysfunction. 5 In a study from China, nearly
65% of infants with arthrogryposis were placed
in group 1, 20% in group 2, and 15% in group 3. 6
Recently Aroojis’ et al proposed a new classification
based on clinical presentation that will probably
make it easier to compare outcomes and response
to different interventions in a systematic
fashion. 7 They classified patients with arthrogryposis
into the following five groups: Group I had
amyoplasia or classic arthrogryposis (56% of their
patients); Group II had distal arthrogryposis
(10.5% of patients); Group III had a specific syndrome
as a diagnosis (5.5% of patients); Group IV
had severe systemic or neurologic involvement
(15% of patients); and Group V had unclassifiable
contracture syndromes (13% of patients). 7
ASSOCIATED MALFORMATIONS
AND SYNDROMES
Since multiple congenital contractures are part
of many different syndromes, it is not surprising
that the congenital anomalies of other organs
are frequently associated with arthrogryposis.
The CNS malformations are most frequently associated,
followed by skeletal, renal, and cardiac
anomalies. Nearly half of all patients with arthrogryposis
may have associated congenital malformations.
7 In one report, 22% of infants had
abnormalities of the craniomaxillofacial area and
in another report approximately 10% of all patients
with arthrogryposis had associated upper
airway or other cranial nerve abnormalities. 8,9
As noted earlier, arthrogryposis or multiple
congenital contractures are part of over 150 syndromes
and a complete list of these disorders is
out of the scope of this chapter. However, an
abbreviated list of common disorders presenting
with joint contractures in neonatal period is
presented in Table 47-2. In addition, a brief discussion
of the following two major subgroups
will help in proper evaluation of an infant with
multiple congenital contractures.
ARTHROGRYPOSIS MULTIPLEX
CONGENITA/AMYOPLASIA
The terms arthrogryposis and arthrogryposis multiplex
congenita (AMC) have been used loosely
and interchangeably to describe any infant with
multiple congenital contractures irrespective of
underlying etiology and prognosis. Since diagnostic
accuracy is important for understanding
and predicting the clinical course of an affected
patient as well as for counseling the parents regarding
recurrence risk, the AMC committee of
the International Federation of Societies for
Surgery of the Hand (IFSSH) recently published
revised criteria for appropriate use of the term
arthrogryposis multiplex congenita. 10 According
to this report, AMC is a very specific, well-defined
condition and this diagnosis should be used only
for cases with the following characteristics:
1. Congenital, the full clinical expression is
present at birth
2. Not genetically inherited and not due to an
embryological malformation
3. Neuropathic etiology with likely cause being
patchy damage of the anterior horn cells
of the spinal cord in the developing fetus
4. Usually symmetric involvement of multiple
joints-both proximal and distal joints of all
four limbs
5. No systemic involvement or anomalies of
other organs
6. Normal intellect and normal sensation
7. The muscles are fewer, smaller, and often
replaced by fibrous or fibrofatty tissue
8. No progression after birth but changes may
occur over time due to growth and development
or interventions
9. Joint deformities are due to secondary
changes as a result of lack of joint movements
10. Typically, these children are very adaptive
in overcoming loss of normal function
AMC has no gender or racial predilection
and the life expectancy is not directly affected
by this disease. Although the exact cause remains