Dwarf status in newborn babies

Introduction Suffering from pediatric cartilage ectodermal dysplasia syndrome, the gnome state appears in newborn babies.

Cause

(1) Causes of the disease

The sign is autosomal recessive, and the cause is still unclear.

(two) pathogenesis

It is currently believed that this disease is associated with abnormal ectodermal formation during embryonic stage, and the formation of this abnormality is related to the dystrophic tolerance of ectoderm.

an examination

The newborn baby is in a dwarf state. For example, the long bones of the limbs are short and thick, the distal fingers (toes) are particularly small, and multiple fingers (toes), hair, and teeth are poorly developed, and the long bones of the whole body are incompletely calcified. In addition, the symptoms are characterized by congenital heart disease, common atrial septal defect, residual foramen ovale, and mitral stenosis. Mental retardation (30%).

According to the clinical manifestations, endocrine examination and chromosome examination can be diagnosed normally.

Differential diagnosis

This disease should be identified with pygmy diseases that cause short stature, such as rickets, cretinism, pituitary dysfunction, achondroplasia, etc., but the short stature of this disease is mainly due to the lower jaw, humerus and elbow below the knee. Due to the short ulna and radius, it is not difficult to identify the clinical appearance or X-ray examination.

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