Congenital malformations - Edocr

304 PART VIII SKELETAL MALFORMATIONS
all infants with limb reduction defects. A family
history of limb defects as well as history of any
other congenital malformations is important because
of the possibility of variability in phenotypic
expression in cases affected by the same
syndromes. A maternal history of threatened
abortion, vaginal bleeding, physical trauma, exposure
to a teratogen, and chorionic villous
sampling in the index pregnancy is particularly
important in these cases. A complete physical
examination may also provide clues to the diagnosis
of amniotic band sequence. Radiograph
of the affected limbs as well as apparently normal
limbs may help in accurately defining the
extent and type of defect. No further workup
may be necessary in an infant with a unilateral,
isolated postaxial longitudinal, or distal transverse
defect with a negative family history and
otherwise normal physical examination. Similarly,
an extensive work-up may not be indicated
in infants suspected to have amniotic disruption
sequence. 24,27 In contrast, imaging studies
of other organ systems such as renal/cranial ultrasound,
echocardiogram, and karyotype should be
strongly considered in all infants with bilateral
limb involvement, preaxial defects, and in presence
of congenital anomalies of other organ
systems. A complete blood count and peripheral
smear should be obtained in all infants with
radial defects. The diagnosis of Fanconi pancytopenia
syndrome should be considered in infants
with longitudinal preaxial defects of the
upper limb and chromosome breakage studies
for this disorder should be considered in all
cases suspected to have this serious disorder. A
genetic consult may be necessary in infants with
associated malformations and suspected syndromic
defects.
MANAGEMENT AND PROGNOSIS
The goals of treatment are improved function, appearance,
and social acceptance. The judicious use
of prostheses with or without any surgery is the
mainstay of treatment but psychosocial support
for the patient and parents are equally important.
Early introduction of prosthesis is vital for normal
development of the child and is recommended
at about 6 months of age for a child with
upper limb deficiency and by about 12 months
of age for many lower limb deficiencies.
A higher perinatal and infant mortality rates
have been reported in infants with limb reduction
defects. 4,11,25 These studies have reported a
mortality rate of 5–13% for all limb reduction defect
cases and 21–56% for those with associated
malformations. 4 Risk of death is highest among
infants with defects of humerus and preaxial
longitudinal defects; and is related to their association
with other anomalies and syndromes.
Most patients with isolated limb reduction defects
have a normal life span.
GENETIC COUNSELING
There is very limited data on recurrence risk in
subsequent pregnancies. Stoll et al reported a
recurrence risk of about 3% while no recurrence
among sibs was observed in a large study from
Italy. 6,9 In another large population-based study
from Norway, children born to a mother with
limb defect had a relative risk of 5.6 of having
the same defect as the mother and this relative
risk is much lower than the relative risk seen in
mothers with cleft lip and palate and is similar
to the risk observed for clubfoot. 28 The recurrence
risk in infants with associated syndromes
would depend on the mode of inheritance of
that syndrome.
REFERENCES
1. Frantz CH, O’Rahilly R. Congenital skeletal limb
deficiencies. J Bone Joint Surg. 1961;43A:1202–24.
2. Lin S, Marshall EG, Davidson GK, et al. Evaluation
of congenital limb reduction defects in upstate
New York. Teratology. Feb 1993;47(2):127–35.
3. Dillingham TR, Pezzin LE, MacKenzie EJ. Limb amputation
and limb deficiency: epidemiology and
recent trends in the United States. South Med J.
Aug 2002;95(8):875–83.