Hypoplasia of the descending muscles of the mouth

Introduction Cardiofacial syndrome is also called asymmetrical crying face, congenital mouth palpebral dysplasia syndrome. In 1969, Cayler found that intrinsic patients were often accompanied by cardiovascular malformations. It is characterized by dysplasia or loss of the horn muscle of the mouth, which causes the patient's lower lip to be asymmetrical when crying. Due to the dysplasia of the flank muscle of the affected side, the lower lip cannot move downward when crying, causing the lower lip to be pulled asymmetrically. side. When you don't cry, the lower lip on both sides is symmetrical and the face is normal. More than 20% of cases are associated with oral organs, such as soft palate, cleft lip, mandibular and ear dysplasia. Skeletal and limb skeletal deformities, kidney loss, and mental retardation have also been reported.

Cause

(1) Causes of the disease

The cause of this disease is still unknown.

(two) pathogenesis

This symptom is a congenital disease, and the pathogenesis is still unclear. Because the disease has a clear family morbidity, family members of the patient should be routinely examined.

Due to dysplasia of the flank muscle of the affected side, the lower lip cannot move downward when crying, causing the lower lip to be pulled asymmetrically to the healthy side. When you don't cry, the lower lip on both sides is symmetrical and the face is normal. More than 20% of cases are associated with oral organs, such as soft palate, cleft lip, mandibular and ear dysplasia. Skeletal and limb skeletal deformities, kidney loss, and mental retardation have also been reported.

Cardiovascular damage: 5% to 10% of cases with cardiovascular malformations, ventricular septal defect is common, in addition to tetralogy of Fallot, atrial septal defect, transposition of the great arteries, tricuspid atresia, ventricular dysplasia and capillaries Tumors, etc.

an examination

Related inspection

Maxillofacial examination electrocardiogram

It can be diagnosed according to the characteristics of facial deformity and cardiovascular damage.

Differential diagnosis

Different from simple congenital heart disease, this disease is accompanied by a deformed shape in which the lower lip is asymmetrically pulled to the healthy side when crying, which can help identify.

It can be diagnosed according to the characteristics of facial deformity and cardiovascular damage.

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