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Sunken ear

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Introduction

Introduction The ear depression is one of the symptoms of Digeol's syndrome in children. Facial characteristics of children with Digolger syndrome include long face, spherical tip and narrow nose, cleft palate, flattened humerus, widened eye distance, squint, low lop ear with umbilical depression and hypogloss. The disease is caused by some factors (such as viral infection, poisoning) leading to the development of the third and fourth pharyngeal sac neural crest in early pregnancy, resulting in hypoplasia or dysplasia of the thymus (often accompanied by parathyroid glands).

Cause

Cause

The disease is caused by some factors (such as viral infection, poisoning) leading to the development of the third and fourth pharyngeal sac neural crest in early pregnancy, resulting in hypoplasia or dysplasia of the thymus (often accompanied by parathyroid glands). Often accompanied by cardiovascular, maxillofacial, ear and other developmental deformities. Some children are prone to occur in the children born to older parents, and some of them are related to chromosome 22q11 defects, mainly the deletion of 22q11.2 (del22q11).

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Cardiac abnormality

Most patients have a left heart outflow tract malformation. Other lesions include right heart outflow tract malformations including pulmonary atresia and tetralogy of Fallot, right ventricular outflow tract, and pulmonary artery stenosis.

2. Hypocalcemia

Hand and foot convulsions caused by hypocalcemia usually occur within 24 to 48 hours after birth, and 1 patient diagnoses hypocalcemia for the first time at 5 years of age. In 40 cases of long-term follow-up, 26 cases of hypocalcemia were corrected, 4 cases died, and the remaining 10 patients continued to receive treatment. Hypocalcemia is particularly prominent during the first two weeks of life, but most are transient and relieve with age.

3. Facial features

Facial features include long face, spherical tip and narrow nose, cleft palate, flattened humerus, widened eye, squinted eyes, low lop ear with occlusion of the ear and dysplasia of the auricle and hypomandible. Other rare body abnormalities include microcephaly, short stature, slender toe, inguinal hernia, and scoliosis.

Repeated infection

Children with complete DiGeorge syndrome have immunodeficiency due to thymic dysplasia, often with repeated infections, manifested as chronic rhinitis, repeated pneumonia (including Pneumocystis carinii pneumonia), oral Candida infection and diarrhea. The child is very weak and not easy to survive.

5. Neuropsychiatric problems

With the improvement of treatment methods, the number of survivors of DGS has increased, and neuropsychiatric problems have been paid attention to. Children with mild neuropsychiatric development and cognitive impairment. The majority of sick children had an IQ of 73 ± 10. Progressive muscle rigidity, gait instability, etc. suggest a neurodegenerative change.

6. Autoimmune diseases

DGS has a higher chance of developing autoimmune diseases than normal children, including juvenile rheumatoid arthritis, autoimmune hemolytic anemia, and thyroiditis.