Flat face

Introduction The flat face is one of the symptoms of dysplasia of the punctate epiphysis. The dysplasia epiphysial punctata is mainly characterized by scattered calcifications in the epiphysis. Also known as chondrodystro-phiacalcificans congenito and stippled epiphyses. Some people think that it is related to hereditary mode: recessive inheritance; many vertebral bodies of children have a vertical light-transmitting strip, the limbs are shortened more symmetrically, the tibia and femur shortening are more obvious, the metaphyseal end is irregular, and the epiphyseal calcification is obviously delayed and destroyed. .

Cause

The cause of this disease is unknown as a congenital anomaly. Most people at birth think that the disease is not hereditary. There are few family history; however, some people think that the disease is hereditary and is divided into autosomal recessive and dominant inheritance according to its X-ray manifestation.

an examination

Related inspection

Bone and joint plain film of limbs

Diagnosis: This disease often manifests as stillbirth or death within 1 week after birth. Infection is often the cause of death. The few long-term survival cases are:

1 joint stiffness and flexion deformity are characterized, especially the knee and elbow joints, due to joint capsule fibrosis.

2 bilateral congenital cataracts.

3 The short bones of the short-legged dwarf limbs are more distant than the distal ones.

4 skin thickening and hair loss.

5 flat face and nasal depression.

6 mental retardation and sometimes dysplasia, an auxiliary examination of this disease.

Mainly for X-ray examination: characteristically visible opaque, scattered or aggregated density-increased spots are clearly defined. Its size ranges from a few millimeters to a large block, occupying the site of the epiphyseal cartilage. These spots appear earlier than the normal ossification center. At the lower end of the humerus, the upper end of the femur is more obvious. The tibia can be completely replaced by opaque spots. The long bones are shortened and hypertrophied, and the femur and tibia are more obvious. The end of the bone is in a figure-eight shape, the sacral line is irregular, and the flat bone and vertebral body are similar. Calcification is also seen in the nasal septum, trachea and laryngeal cartilage, resulting in stenosis of the throat. As the age increases, the scattered spots will gradually merge. The lesions also improved.

Differential diagnosis

In terms of diagnosis, the disease relies entirely on X-ray examination. For example, there are congenital cataracts in the clinic, and hyperkeratotic joint contracture of the skin can be used as a reference.

Diagnosis is generally not difficult, and the main diseases that need to be differentially diagnosed with this disease include:

1. Multiple epiphyseal dysplasia;

2, cretinism;

3, osteochondritis: when the amount of calcification is small, it is easy to be mixed with osteochondritis or mistaken for the sequelae of osteochondritis.

Diagnosis: This disease is often manifested as stillbirth or death within 1 week after birth. Infection is often the cause of death. In a few long-term survival cases, it is:

1 joint stiffness and flexion deformity are characterized, especially the knee and elbow joints, due to joint capsule fibrosis.

2 bilateral congenital cataracts.

3 The short-legged pygmy limbs are proximal to the bones and the distal side is short-formed. The epiphyseal enlargement 4 skin thickening and hair loss.

5 flat face and nasal depression.

6 mental retardation and sometimes dysplasia, the auxiliary examination of this disease.

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