Journal of Postgraduate Medicine
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CASE REPORT
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Year : 1992  |  Volume : 38  |  Issue : 3  |  Page : 147-8,150  

Asymmetric crying facies: the cardiofacial syndrome.

M Sanklecha, A Kher, BA Bharucha 
 Dept of Paediatrics, Seth GS Medical College, Parel, Bombay, Maharashtra.

Correspondence Address:
M Sanklecha
Dept of Paediatrics, Seth GS Medical College, Parel, Bombay, Maharashtra.

Abstract

A 5 1/2 month old female child presented with cyanosis and recurrent respiratory infection. Asymmetric facies was noticed on crying. On investigation an ostium secundum atrial septal defect with right partial anomalous pulmonary venous connection and severe pulmonary hypertension was detected. The association of asymmetric crying facies with congenital cardiac anomalies, known as cardiofacial syndrome, is presented here to highlight the use of this clinical sign as a marker to congenital anomalies.



How to cite this article:
Sanklecha M, Kher A, Bharucha B A. Asymmetric crying facies: the cardiofacial syndrome. J Postgrad Med 1992;38:147-8,150


How to cite this URL:
Sanklecha M, Kher A, Bharucha B A. Asymmetric crying facies: the cardiofacial syndrome. J Postgrad Med [serial online] 1992 [cited 2022 May 25 ];38:147-8,150
Available from: https://www.jpgmonline.com/text.asp?1992/38/3/147/686


Full Text




  ::   IntroductionTop


Asymmetric crying facies, caused by unilateral weakness of the lower lip depressors is an invaluable marker of congenital anomalies of the cardiovascular, respiratory, genitourinary and skeletal systems. We report such an association with an unusual congenital heart disease.


  ::   Case reportTop


A 5-month-old female child presented with cyanosis and recurrent respiratory tract infections. Asymmetric facies on crying had been noticed since birth (See [Figure:1])

Examination revealed central cyanosis on crying. Closure of both eyes and contraction of both occipito-frontalis muscles were normal. There was a depression of the left angle of the mouth. Cardiac auscultation revealed an ejection systolic murmur in the third left intercostal space. Electrocardiogram showed right ventricular hypertrophy and right axis deviation. Chest roentgenogram showed a widened superior mediastinum with cardiomegaly. 2D Echo revealed an ostium secundum atrial septal defect with right partial anomalous pulmonary venous connection and severe pulmonary hypertension.

At cardiac catheterization, there was a 25% step-up in oxygen saturation at the high right atrial level, which was carried forward. There was no systemic de-saturation. Pulmonary artery pressure was 50/16 mm Hg with a mean of 32 mm Hg. This was similar to the aortic pressure.

Pulmonary artery angiogram in PA view revealed a hold-up of contrast in the left atrium with subsequent opacification of the right atrium, both ventricles and great arteries. Left superior pulmonary venous angiogram revealed a membrane in the left atrium as evidenced by a linear negative shadow.

Roentgenogram of the vertebral column revealed no abnormality. Electromyography and nerve conduction of the left facial muscles was contemplated, but the child died of the heart disease before this investigation could be carried out.


  ::   DiscussionTop


Asymmetric crying facies was considered insignificant at onetime and often confusedwith acongenital facial palsy. It is now known that 5% of infants with congenital heart disease have this abnormal facies, and 5% of patients with this facies have associated anomalies. The association is sufficiently delineated and is now referred to as the cardiofacial syndrome. The basic defect may result from either unilateral partial paralysis of the 7th nerve (ramis marginalis mandibularis branch)[1] or congenital hypoplasia or agenesis of the depressor anguli oris muscles[2]. The anomaly is right sided in 45% cases and left sided in 55% cases[3]. The anomaly persists throughout life, does not interfere with smiling, and only appears on crying or excessive grimacing[3].

Associated cardiac anomalies occur in 5%[1] to 50%[3] patients and include ventricular/atrial septal defect, patent ductus arteriosus, tetralogy of Fallot, right or double aortic arch, pulmonary stenosis, coarctation of the aorta, tricuspid atresia, single ventricle, hypoplastic right ventricle, hypoplastic pulmonary arteries and bicuspid aortic value[1],[2].Our patient had a cardiac defect that has not been reported earlier[4]. Associated vertebral anomalies include hemivertebrae, fused vertebrae, sternal and rib anomalies, and hypoplastic or absent radius and thumb[5],[6]. Our patient had no associated bony abnormalities. Genitourinary anomalies include absent, hypoplastic, ectopic, bifid or polycystic kidneys, bifid scrotum, hypogonadism, cryptorchidism and hypospadias[5].

The other anomalies reported include respiratory anomalies (tracheo-oesophageal atresia, laryngomalacia, bronchial stenosis, absent bronchus, absent lung lobe), anal stenosis, imperforate anus and absent thymus[1],[6].


  ::   AcknowledgmentTop


We thank the Dean, Hospital, Mumbai for allowing us to publish this case report.

References

1 Gorlin RJ, Pindborg JJ, Cohen MM. Cranial nerve syndromes with orofacial manifestations. In: Gorlin RJ, Pindborg JJ, Cohen MM Editors. Syndromes of the Head and Neck. 2nd ed. Missouri, USA: Mcgraw Hill Book Co; 1976, pp 203-204.
2Goodman MR, Gorlin RJ. Atlas of the Face in Genetic Disorders. 2nd ed. Saint Louis: CV Mosby Co; 1977, pp 468-499.
3Keith JD, Rowe RD, Vlad P. Heart Diseases in Infancy and Childhood. 3rd ed. New York: Macmillan publishing; 1978, pp 35-36.
4Pape KE, Pickering D. Asymmetric crying facies an index of other congenital anomalies. J Pediatr 1972; 81:21-30.
5Alexiou D, Manolidis C, Papaevangellou G, Nicolopulous D, Papadatos C. Frequency of other malformations in congenital hypoplasia of depressor anguli oris muscle syndrome. Arch Dis Child 1976; 51:891-893
6Periman M, Reisuer SH. Asymmetric crying facies and congenital anomalies. Am J Dis Child 1973; 48:627-629.
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