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Introduction Acrocephalosyndactyly syndrome (Acrocephalosyndactyly syndrome), also known as Apert syndrome and finger deformity (Syndactylic oxycephaly syndrome), is characterized by abnormalities in the skull and facial bones. A group of symptoms with a deformed (toe) deformity. The etiology of this disease has not yet been clarified. Occasionally, genetic or familial sex has previously been considered to be the cause of congenital syphilis and rubella in the umbilical cord of osteitis and rickets. It is believed that autosomal dominant inheritance can also be recessive.

Cause

The etiology of this disease has not yet been clarified. Occasionally, genetic or familial sex has previously been considered to be the cause of congenital syphilis and rubella in the umbilical cord of osteitis and rickets. It is believed that autosomal dominant inheritance can also be recessive.

Pathogenesis: Approximately related to defects in mesoderm development at 8 weeks of embryonic development. Pathological changes include premature fusion of the skull, osseointegration, joint fusion, and dysplasia of the bone.

At present, the occurrence of this disease is thought to be caused by a genetic mutation. Because the occurrence of this disease is mostly sporadic, the parents of the child are older (the father is 36 years old, the mother is 33 years old), and its occurrence with the increase of the fetus may be a parent, especially the father's germ cell mutation. Caused.

an examination

Related inspection

CT examination of the extremities, CT examination of the skull, bones, joints and soft tissues, CT examination of the bones and joints of the extremities

According to the clinical manifestations of abnormalities of the skull and facial bones, accompanied by finger (toe) deformity can be diagnosed and refers to (toe) symmetry is a major feature of this symptom is an important condition for diagnosis.

Laboratory inspection:

Chromosome examination without abnormal health search blood biochemical examination and blood, urine, stool routine examination is generally normal.

Other auxiliary inspections:

In the skull, there is a finger indentation in the intracranial hypertension. The bone fragments were seen in the skeletal malformation, the cranial cranial suture, the spina bifida, the osseointegration and the joint fixation. The fundus examination showed retinal edema, and the EEG showed abnormal brain waves.

Differential diagnosis

(A), Crouzon's syndrome: also known as hereditary head facial bone hypoplasia, is a special type of cranial suture early closure. There is a family history of genetics. The characteristics of head and face deformity are that the majority of the skull is closed early, the maxilla develops poorly and hydrocephalus, the anterior and posterior diameter of the skull is short, the eyes are separated and squinted outward, the nose is retracted, the nasal arch is widened, and the lower edge of the eyelid is narrowed. The eyeball protrudes forward, and the upper and lower teeth are reversed. In addition to head and face deformities, there are often signs of headache and brain compression.

(B), microcephaly: often due to harmful environmental factors during the fetal period. Occasionally seen in autosomal recessive inheritance. There are obstacles in the development of the brain and skull in this disease. After the development, the brain weight should not exceed 1000 grams, and the maximum cranial circumference should not exceed 47 cm. The shape of the skull also has specific changes. The forehead and occipital are flat, narrow, and slightly pointed at the top, which is in sharp contrast to the development of a complete facial bone. The scalp is thickened and the hair is thick. Short stature, intelligent development stays in the idiot stage.

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