Epiphyseal insufficiency of long bones

Introduction Cartilage ectodermal dysplasia syndrome, also known as Ellis-van Creveld congenital malformation syndrome, congenital cartilage calcification disorder heart disease syndrome, cartilage ectodermal dysplasia syndrome and other health searches, is an autosomal recessive hereditary disease, performance For short-legged gnomes, there are often congenital heart diseases and mental disorders. 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) can appear, hair and teeth develop poorly, and the long bones of the whole body are incompletely calcified.

Cause

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

an examination

Related inspection

Bone and joint plain film of limbs

Clinical manifestations: diarrhea status occurs in newborn babies. For example, the long bones of the limbs are short and thick. The distal fingers (toes) are particularly small. There are many fingers (toes), hair and teeth development, and the long bones of the whole body are incompletely calcified. The symptoms are characterized by congenital heart disease, common atrial septal defect, residual foramen ovale, mitral stenosis, etc. Mental retardation (30%).

Diagnosis: Endocrine examination, chromosome examination can be diagnosed.

Differential diagnosis

This disease should be associated with dwarf disorders that cause short stature, such as rickets, cretinism, pituitary insufficiency, achondroplasia, etc., but the short stature of this disease is mainly due to the lower jaw, below the tibia and elbow. The clinical appearance or X-ray examination is generally identified because of the short ulna and radius.

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