What's the meaning of "pointed and pointed"?

summary

The etiology of this disease is still unknown, occasionally genetic or familial, previously thought that osteitis, rickets, congenital syphilis, rubella in amniotic fluid umbilical cord compression as the cause of this disease, at present, most of them think that it is autosomal dominant inheritance, but also recessive inheritance. What's the meaning of "pointed and pointed"? Let's talk about it

What's the meaning of "pointed and pointed"?

Crouzon's syndrome, also known as hereditary craniofacial dysplasia, is a special type of craniosynostosis. Most of them have family genetic history. Craniofacial deformities are characterized by premature closure of most cranial sutures, poor development of maxilla and hydrocephalus, short anterior posterior diameter of skull, separation of two eyes and outward strabismus, retraction of nasal base, widening of nasal arch, narrowing of lower edge of orbit, forward protrusion of eyeball, and reverse occlusion of upper and lower teeth. In addition to the head and face deformity, there are often signs of headache and brain compression.

Microcephaly is often caused by harmful environmental factors in the fetal period. Occasionally seen in autosomal recessive inheritance. In this case, the development of brain and skull is impaired. After complete development, the weight of brain does not exceed 1000g, and the maximum circumference of skull does not exceed 47cm. The frontal part and occipital part were flat, narrow and slightly pointed at the top, forming a strong contrast with the fully developed facial bone. Thick scalp and thick hair. Short stature, intellectual development in the idiot stage.

Cranial radiographs showed intracranial hypertension with finger indentation. Bone film showed skeletal deformity, premature closure of craniocerebral suture, spina bifida, osseointegration and joint fixation. Retinal edema was found in fundus examination, and abnormal brain waves were found in EEG.

matters needing attention

Pregnant women should avoid harmful factors as far as possible, including smoke, alcohol, drug radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc. In the process of prenatal care during pregnancy, we need to carry out systematic birth defect screening, including regular ultrasound examination, serological screening, and chromosome examination when necessary.