Congenital malformations - Edocr

118 PART III CRANIOFACIAL MALFORMATIONS
TABLE 17-1 Common Genetic Disorders
Associated with Choanal Atresia
Achondroplasia
Brachmann-de Lange syndrome
CHARGE syndrome
Chromosome abnormalities
Craniosynostosis syndromes (including
Apert, Crouzon, Pfeiffer)
Treacher Collins syndrome
Choanal atresia is a frequent component in more
than 20 syndromes. 5 Some of the more common
disorders are listed in Table 17-1.
In 1981, Pagon et al. 6 proposed the acronym
CHARGE association (Coloboma, Heart anomalies,
choanal Atresia, growth or developmental
Retardation, Genitourinary anomalies, and Ear abnormalities
and/or hearing loss) to describe a pattern
of congenital malformations in which choanal
atresia is a frequent component (Table 17-2). An
association is a nonrandom cluster of anomalies
in which the individual components occur together
more frequently than would be expected
by chance. While long considered an association,
recently it has been accepted that since the
findings have been sufficiently delineated and a
consistent recognizable pattern occurs in a significant
portion of patients, CHARGE be designated
a syndrome rather than an association. 7
The most common and obvious facial feature
in CHARGE syndrome is an abnormality in
the shape, size, and/or positioning of the ears
TABLE 17-2 Major Features of CHARGE
Association and Frequencies of Anomalies
Coloboma 82%
Heart malformations 74%
Choanal atresia 54%
Growth and/or mental 92%
retardation
Genitourinary anomalies
Male 71%
Female 29%
Ear anomalies/deafness 91% / 62%
Figure 17–1. Abnormal shape and positioning
of ear in infant with CHARGE syndrome.
(Reprinted with permission from Tellier AL,
Cormier-Daire V, Abadie V, et al. CHARGE syndrome:
report of 47 cases and review. Am J Med
Genet. 1998;76:402–9. Reprinted with permission
of Wiley-Liss Inc., a subsidiary of John Wiley
& Sons, Inc.)
(Fig. 17-1). Additional findings commonly identified
in individuals with CHARGE syndrome include
facial palsy, central nervous system abnormalities,
and cochleovestibular abnormalities
(absence or abnormal semicircular canals and
vestibular dysfunction).
The minimal criteria for designation of
CHARGE syndrome has been the subject of much
debate since Pagon’s original report which suggested
that a diagnosis of CHARGE requires the
presence of at least four of the defined congenital
anomalies. 6 Harris et al. 2 suggested that the
term CHARGE should be restricted to infants with
multiple malformations and choanal atresia and/or
coloboma, combined with other major malformations
(heart, ear, and genital) for a total of at
least three cardinal malformations. Using these
criteria, approximately 15–20% of patients with
choanal atresia and multiple congenital anomalies
would have a designation of CHARGE syndrome.
More recently, alternative diagnostic criteria have