Download Anotia and Facial Palsy: Unusual Features of Cardiofacial Syndrome

Clinical Brief
Anotia and Facial Palsy: Unusual Features of
Cardiofacial Syndrome
K.M. Girisha and Shubha R. Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow,
India
Abstract. The authors report a child with features of Cardiofacial syndrome with anotia and facial paralysis. This is the first
report of such an association. [Indian J Pediatr 2005; 72 (6) : 525-526] E-mail: [email protected]
Key words : Asymmetric crying facies; Congenital heart disease; Hypoplasia of depressor anguli oris; Pearl syndrome
Cardiofacial syndrome is associated with asymmetric
crying facies with congenital heart disease among other
abnormalities. The authors report a case with features of
cardiofacial syndrome with anotia and facial weakness.
These unusual findings are being reported with
Cardiofacial syndrome for the first time.
CASE REPORT
A 42 days old boy was referred to our genetic clinic for
evaluation of dysmorphism. He was born of a
nonconsanguineous union at term with a birth weight of
2 kg. He weighed 2 kg (~3 rd centile). His head
circumference was 34 cm (within 2SD from normal) and
his length was 50 cm (5th centile). He had anotia on right
side and microtia on left side (Fig 1a and 1b). The left
auricular canal was patent. There was lower motor
neuron weakness of facial nerve on right side manifested
by inability to close the right eye and loss of nasolabial
fold on the same side (Fig 2a). Asymmetric crying facies
was noted with right lower lip being pulled down while
crying (Fig 2b). This indicated hypoplasia of left depressor
anguli oris. Left eye closure and nasolabial fold was
normal. He was symptomatic of a nonrestrictive
ventricular septal defect with valvular pulmonic stenosis.
There was a small patent ductus arteriosus. The couple
denied any significant illness during pregnancy or intake
of teratogenic substance like retinoic acid and
thalidomide. The child did not have any other
malformation on detailed evaluation. His Giemsa-banded
karyotype (550 band level) was normal. No microdeletion
in chromosome 22q11.2 region was found by fluorescence
in situ hybridization (Vysis Inc.). His parents were normal
on clinical examination.
Correspondence and Reprint requests : Dr. Shubha R. Phadke,
Associate Professor, Medical Genetics, SGPGIMS, Lucknow-226014,
India.
Indian Journal of Pediatrics, Volume 72—June, 2005
Fig. 1a. Anotia of right side
Fig. 1b. Microtia on left side
DISCUSSION
Cardiofacial syndrome is a well-known entity with
asymmetric crying facies giving a clue to the underlying
abnormalities like congenital heart disease. The other
associated abnormalities include those of skeletal
525
K.M. Girisha and Shubha R. Phadke
Fig. 2a. Face at rest
palate, torticollis and scoliosis. As no further cases have
been reported, this syndrome is not well characterized
yet. In addition to hypoplasia of depressor anguli oris and
cardiac disease, the present case had features similar to
those described by Pearl (anotia and ipsilateral facial
anomalies) and additional microtia on contralateral side.
The triad of anotia, facial paralysis and congenital
heart disease has been reported in association with
teratogenic effect of thalidomide and retinoic acid or a
possible variant of Goldenhar syndrome.4, 5, 6 But these
associations were not observed in the present case. The
combination of facial paralysis on one side and
hypoplasia of depressor anguli oris has not been reported
till date. Though auricular malformations have been
reported with cardiofacial syndrome, anotia has not been
reported.2
This case shows features of Pearl syndrome
overlapping with those of cardiofacial syndrome. It may
indicate a disturbance of a common pathway in the
development of ear, facial nerve and depressor anguli
oris.
Acknowledgements
The authors thank the technical assistance of Mr Ram Sharan for
fluorescence in situ hybridization studies
REFERENCES
Fig. 2b. Asymmetry of eye closure, nasolabial folds and angle of
mouth on crying
(costovertebral, radius, thumb), genitourinary,
gastrointestinal tract, cleft lip/ plate, respiratory and
central nervous system. 1 Lin et al found auricular
dysplasia or hypoplasia in 16 of 50 cases with congenital
hypoplasia of depressor anguli oris muscle.2 Lower motor
facial weakness is not reported with cardiofacial
syndrome till date. Deletion of 22q11 is occasionally noted
in some cases.1 No such deletion was observed in our
subject.
Pearl had described two girls with anotia, facial
paralysis and congenital heart disease without any
obvious etiology.3 One girl had right-sided facial paralysis
and absent pinna with blind external auditory canal on
right side. The other girl had similar anomalies on the left
side. Both had ventricular septal defects and valvular
pulmonary stenosis. The second child also had cleft
526
1. Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the Head
and Neck. New York: Oxford University Press 2001.
2. Lin DS, Huang FU, Lin SP et al. Frequency of associated
anomalies in congenital hypoplasia of depressor anguli oris
muscle: a study of 50 patients. Am J Med Genet 1997; 71 : 215218.
3. Pearl W. Syndrome of anotia, facial paralysis and congenital
heart disease. J Pediatr 1984; 105 : 441-442.
4. Matthies F. The triad of anotia, facial paralysis and cardiac
anomaly not due to thalidomide. JAMA 1996; 195 : 695-696.
5. Lammer EJ, Chen DT, Hoar RM et al. Retinoic acid
embryopathy. N Engl J Med 1985; 313 : 837-841.
6. Chappuis BB, Engel E. Anotia, facial palsy and cardiac
abnormalities: specific triad or variant of Goldenhar
syndrome? Ann Genet 1989; 32 : 52-54.
Competing interests
The authors declare that they have no competing interests
Authors’ contributions
GKM and SRP evaluated the case and drafted the manuscript. SRP
conducted the cytogenetic analysis. Both the authors read and
approved the final manuscript
Acknowledgements
Written consent was obtained from the father of the child for
publication of photographs.
Indian Journal of Pediatrics, Volume 72—June, 2005