Congenital malformations - Edocr

302 PART VIII SKELETAL MALFORMATIONS
TABLE 45-1 Congenital Malformations in Associations with Different Limb Reduction Defects
Limb Defect
Transverse
• Amelia & rudimentary limb
• Others
Longitudinal
• Preaxial
• Unilateral
• Bilateral
• Postaxial
• Central Axis
Intercalary
Multiple
Associated Congenital Malformations
Gastroschisis, anorectal atresia, omphalocele unilateral renal
agenesis, anencephaly/encephalocele cleft lip, diaphragmatic
hernia, craniofacial defects
Micrognathia and other craniofacial defects
VACTERL association anomalies, facial, auricular, vertebral
anomalies
VACTERL association anomalies
Hydrocephalus
Cleft lip
Hypospadias
EEC Syndrome anomalies,
Oro-mandibular and limb anomaly,
Hydronephrosis
Encephalocele
Omphalocele
Craniofacial defects
Axial skeleton defects
reduction defects are cryptorchidism, ventricular
septal defect, cleft lip with or without cleft
palate, club feet, syndactyly, renal agenesis, imperforate
anus, and hydrocephalus. 4 A renal
anomaly is reported to be present in about 8%
of all cases of limb reduction defects and in 25%
of infants with limb reduction defects and one or
more congenital anomaly of other organs. 23
Twenty-five percent of these cases have VAC-
TERL (vertebral, anal, cardiac, tracheal,
esophageal, renal, and limb) association and the
etiological diagnosis remain unknown in 50%. Infants
with limb reduction defects and other associated
congenital anomalies have a significantly
higher perinatal mortality rate and the risk of death
is reported to be highest among infants with preaxial
radial defects and humerus defects. 4,11
About 15–30% of all cases with limb reduction
defects and 35–50% of all cases with limb reduction
defects with congenital anomalies of other
organs have a recognizable syndrome. Trisomy
18 followed by Trisomy 13 and 21 are the most
common chromosomal abnormalities reported
in infants with limb reduction defects. The most
commonly encountered syndromes and associations
seen in these infants are Holt-Oram,
Ectrodactyly-ectodermal dysplasia-clefting (EEC),
Thrombocytopenia-absent-radius (TAR) syndrome,
and VACTERL association. Table 45-2
summarizes other commonly associated syndromes
seen in infants with limb reduction defects.
The presence of congenital malformations
of other organs, preaxial defects of upper limb,
bilateral limb involvement, and male gender are
factors that predict a high likelihood of an associated
syndrome in these infants. 24–27
EVALUATION
A detailed family history, pregnancy history,
and complete physical examination for accurate
evaluation of the limb defects and other associated
malformations are important first steps in