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Common Multiple Congenital Anomaly
Common Multiple Congenital Anomaly
I. Clinical presentation. Table 7-1 lists symptoms and signs that should alert the clinician
to the possibility of cryptogenic malformations or disorders. Obviously, if overt malformations
are present, an MCA syndrome will be immediately recognized and diagnostic efforts will
shortly follow. However, if external features of the disorder are subtle or nonspecific and the
usual procedures associated with intensive newborn support have been started, findings may
go unrecognized early.
Each manifestation listed in Table 4-1 is more common in infants with MCA syndromes.
Table 7-2 list the more common neonatal MCA syndromes, many of which share some of the
features set forth in Table 7-1.
TABLE 7-1. SYMPTOMS AND SIGNS IN NEONATES THAT MIGHT INDICATE CRYPTOGENIC
MULTIPLE CONGENITAL ANOMALY SYNDROME
Prenatal
Oligohydramnios
Polyhydramnios
Decreased or unusual fetal activity
Abnormal fetal problem/position
Postnatal
Abnormalities of size: SGA or LGA, microcephaly or macrocephaly, large or irregular
abdomen, small chest, limb-trunk disproportion, asymmetry
Abnormalities of tone: hypotonia, hypertonia
Abnormalities of position: joint contractures, fixation of joints in extension,
hyperextension of joints
Midline aberrations: hemangiomas, hair tufts, dimples or pits
Problems of secretion, excretion, or edema: no urination, no passage of meconium,
chronic nasal or oral secretions, edema (nuchal, pedal, generalized, ascites)
Symptoms: unexplained seizures, resistant or unexplained respiratory distress
Metabolic disorders: resistant hypoglycemia, unexplained hypo- or hypercalcemia,
polycythemia, hyponatremia, thrombocytopenia
TABLE 7-2.
→ THE MOST COMMON CHROMOSOME DISORDERS DIAGNOSED IN THE
NEONATAL PERIOD
Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards' syndrome)
Trisomy 13 (Patau's syndrome)
45,X (Turner's syndrome)
→ THE MOST COMMON NONCHROMOSOMAL DEFORMATION OR DISRUPTION
SEQUENCES DIAGNOSED IN THE NEONATAL PERIOD
Potter's oligohydramnios sequence
Amniotic band syndrome
Pierre Robin sequence
→ OTHER MCA SYNDROMES OF SPECIAL INTEREST IN THE NEONATE
VATER association
CHARGE association
Beckwith's syndrome
→ TERATOGENIC SYNDROMES COMMONLY SEEN IN NEONATES
Fetal alcohol syndrome
Infant of a diabetic mother
Infectious diseases
III. Chromosomal syndromes. Chromosomal syndromes are by far the most common
MCA syndromes diagnosed in the neonatal period.
V. Miscellaneous syndromes
A. VATER association
1. Incidence. About 1 in 5000 live births.
2. Clinical presentation. Major features include vertebral anomalies, anal atresia,
tracheoesophageal fistula, esophageal atresia, and radial defects. The V in VATER can also
represent vascular (cardiac) defects and the R, renal defects, because these two areas are also
commonly involved. The presence of additional features, except for atresia of the small
intestine and occasional hydrocephalus, rules out a diagnosis of VATER association. This
nonrandom association is usually not of genetic origin and requires exclusion of other similar
disorders, including chromosomal syndromes.
B. CHARGE association
1. Incidence. Although it does not occur as frequently as the VATER association, the
CHARGE (coloboma, heart disease, choanal atresia, retarded growth and development with or
without CNS anomalies, genital anomalies with or without hypogonadism, ear abnormalities or
deafness) association is common, occurring in 1 in 10,000 to 1 in 15,000 live-born infants.
CHARGE often presents as a medical emergency because about half of the patients have
choanal atresia, serious heart defects, and swallowing difficulties.
2. Clinical presentation
a. Choanal atresia. The infant may present with unexplained respiratory distress. The
posterior nares can be blocked unilaterally or bilaterally as well as being stenotic.
b. Associated anomalies. Patients with CHARGE association also have heart defects,
small ears, retinal colobomas, and cleft lip and palate; males have micropenis. A smaller
percentage have unilateral facial palsies and swallowing difficulties, the latter potentially as
lethal as choanal atresia. Postnatal growth deficiency and psychomotor delay round out the
major features of this nonrandom and nongenetic association.
3. Diagnosis. Any newborn with unexplained breathing difficulties should have
nasogastric tubes passed through its nasal passages, particularly if there are multiple congenital
anomalies. Exclusion of other similar entities and chromosomal disorders is essential before the
diagnosis of CHARGE association can be accepted.
C. Beckwith's syndrome
1. Clinical presentation
a. Physical findings typically include LGA (large for gestational age) infants with
macroglossia and omphalocele, but ~20% of patients have only one or neither of these
features. Unilateral limb hypertrophy may also be seen.
b. Laboratory findings. Refractory hypoglycemia is frequently present regardless of the
presence of external features and should immediately raise the possibility of Beckwith's
syndrome.
2. Management. Making the diagnosis early in the postnatal period and immediate
institution of aggressive hypoglycemic therapy may prevent mental retardation.
A. Fetal alcohol syndrome (FAS) may be suspected on the basis of the phenotype
alone (short palpebral fissures; epicanthal folds; a flat nasal bridge; a long, simple philtrum; a
thin upper lip; and small, hypoplastic nails) or may present only as a small for gestational age
infant. It may also present with microcephaly. FAS also has an increased association with
congenital heart defects. A thorough history of maternal drug intake is important to rule out a
teratogenic cause of multiple anomalies and mental retardation.
VII. Genetic counseling for MCA syndromes is complex and requires a great deal of
sensitivity. First, it is important to have a secure diagnosis, if one is possible. The next step is to
establish the parents' understanding of the entire situation and what they have been told by
other professionals. Recurrence risk figures and the availability of prenatal diagnosis for
subsequent pregnancies are mandatory areas to cover.
Questions
4. What MCA syndrome presents with respiratory distress that is relieved when the
infant is placed in prone position?
1. Trisomy 21
3. Turner’s syndrome.
4. Pierre-Robin sequence.
6. CHARGE association.