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International Journal of Clinical Case Reports 2013, Vol.3, No.7, 37
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Figure 1 Picture showing child with microtia grade 3 on right
side (arrow indicate)
Figure 2 Picture showing child with large lobulated left
external ear with stenosis in ear canal (arrow indicating)
ding face or ears specially. So a negative family history
indicates role of some mutation or enviormental fact-
or had played some role at time of intrauterine develo-
pment in form of radiation/medication/pollutants. A
recessive genetic trait may be blamed for this anomaly
because partial consanguinity in marriage of parent
was there. Child was assessed and found free from
other congenital malformation as well as diseases.
Discussion
Cases of m icrotia may be dif ficult to define.
Approximately 29% of the cases of
diagnosed
microtia do not have full atresia of the external
auditory meatus (Castillo and Orioli, 1986). Anotia
accounts for 13%~22% of the c ases of microtia and
anotia combined (Harris et al., 1996; Mastroiacovo et
al., 1995). Anotia/microtia is an iso lated condition in
65%
of cases (Harris et al., 1996; Mastroiacovo et al.,
1995;
Castilla and O rioli, 1986), although several
investigations reported isolated rates of less than 50%
(
Sánchez et al., 1997; Castilla and Lopez-Camelo,
1990).
Over 80% of the cases of microtia or anotia are
unilateral (Sánchez et al., 1997; Mastroiacovo et al.,
1995).
Of the unilateral cases of m icrotia or anotia,
approximately 60% occur on the right side (Paulozzi
and Lary, 1999; Sánchez et al., 1997; Harris et al.,
1996;
Mastroiacovo et al., 1995). Autosomal dominant
inheritance of microtia or anotia has been reported in
some families (Buyse, 1990).
By reviewing all stu dies mentioned above and other
medical literatuire suggested that bilateral microtia/
anotia is a rare phenomena and if it is bilateral it may
be heredity in nature but our findings are qu ite
different because we foun d bilateral microtia/anotia
without any hereditical association. That finding raise
a question is microtia really has ge netic correlation?
Role of mutation can not be ruledout.
Chromosomal abnormalities occur i n 6%~16% of
cases of microtia or anotia (Sánchez et al., 1997; Harr-
is et al., 1996). Chromosomal abnormalities associated
with microtia or anotia include trisomy 21, trisomy 18,
trisomy 13, and the deletion complexes 18q-, 18p-,
and 5p- (Harris et al., 1996; Carey, 1993; Buyse, 1990).
Other birth defects associated with microtia/anotia
include holoprosencephaly, facial clefts, cardiac
defects, anophthalmia/microphthalmia, esophageal atr-
esia, limb reduction deformities, renal anomalies,
polydactyly, and vertebral anomalies (Wang et al.,
2001;
Harris et al., 1996; Mastroiacovo et al., 1995).
References
Buyse M.E., ed., 1990, Ear, Microtia-Atresia, In: Birth Defects Encyclo-
pedia, Blackwell Scientific Publications, Cambridge, Massachusetts,
pp.591-592
Carey J.C., 1993, External ear, In: Stevenson R.E., Hall J.G., Goodman R.M.,
eds., Human Malformations and Related Anomalies, Oxford University
Press, New York, pp.193-219
Castilla E.E., and Lopez-Camelo J.S, 1990, The surveillance of birth defects
in South America. In: Adva nces in Mu tagenesis Research,
Springer-Verlag, New York, pp.191-210
Castilla E.E., and Orioli I.M., 19 86, Prevalence rates of microtia in South
America, Int. J. Epidemiol., 15(3): 364-368
Harris J., Källén B., and Robert E., 1996, The epidemiology of anotia and
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Mastroiacovo P., Corchia C., Botto L.D., Lanni R., Zampino G., and Fusco
D., 1995, Epidemiology and genetics of m icrotia-anotia: A registry
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Meurman Y., 1957, Congenital microtia and meatal atresia, Arch.
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Paulozzi L.J., and Lary J.M., 1999, Laterality patterns in infants with
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