Kyphosis

Introduction The heel protrudes backwards and is common in the trisomy 13 syndrome. Trisomy 13 is also known as Patau syndrome and is caused by chromosomal abnormalities. The deformity and clinical manifestations of the child are much more severe than the trisomy 21 . Craniofacial malformations include small head, forehead, forebrain developmental defects, small eyeballs, often iris defects, wide and flat nose, 2/3 children with upper cleft lip, often cleft palate, low ear, auricular deformity, The jaw is small, the other common multi-finger (toe), the fingers are stacked, the heel is protruding backwards and the sole of the foot is convex, forming a so-called rocking foot. Men often have scrotal deformities and cryptorchidism, while women have clitoris hypertrophy, double vagina, and double-horned uterus.

Cause

Structural aberrations in chromosomal deletions, translocations, insertions, duplications, and circular chromosomes result in abnormal development of the gene. The frequency of trisomy 13 is between 1/4000 and 1/10000. The mother's age distribution is 25 years old and 38 years old. The latter peak is related to the mother's high age, and 40% of the mother is older than 35 years old.

an examination

Related inspection

Joint examination of bone and joint soft tissue CT

Multiple deformities in children are more serious than trisomy 18 and trisomy 21, and there are growth and development disorders, feeding difficulties, poor living ability, intelligent retardation, low muscle tone, often sudden signs of fear and apnea and exercise. A seizure episode accompanied by a change in the peak rhythm of the EEG. The child's head is small, the forehead is retracted, the ankle is narrow, the front ankle and the suture are wide, and the scalp of the skull is ulcerated. The cleft palate is horizontal, showing different degrees of small eyes to no eyes, wide eye distance, cataract, iris defect and abnormal retinal development. Can be seen with one-eyed deformity, large flat triangle mouth, thin mouth and small jaw. In 2/3 cases, the upper cleft lip is seen, often bilateral, with cleft palate. The ear position is low, the ear wheel is flat and the boundary is unclear, and there are deafness.

There may be one or more hemangiomas on the face, forehead or nape of the neck. The neck skin is loose. The 12th rib was dysplastic or absent, and the pelvic dysplasia was associated with acetabular angle. 80% of cases have congenital heart disease, mainly ventricular septal defect, patent ductus arteriosus, atrial septal defect. Gastrointestinal malformations can be seen in poor colon rotation, umbilical and inguinal hernia, pancreatic or spleen tissue ectopic. Finger flexion overlaps with or without, common six fingers (toe), nails protruding excessively. The foot is rocking the bottom of the chair and the heel is prominent. 30 to 60% of children have urinary malformations, polycystic kidney, hydronephrosis, kidney and double ureter. 80% of men have cryptorchidism, see scrotal deformity, women can have double-horned uterus, clitoris hypertrophy and double vagina.

X-ray examination: abnormal skull and ribs, sometimes lacking the first and second spine, visible iliac hyperplasia. The bones are backward.

Skin texture: An abnormal manifestation of skin wrinkles. 60% have a hand.

Differential diagnosis

Trisomy 13 needs to be differentiated from trisomy 18.

Compared with the trisomy 18 syndrome, the prenatal developmental changes in the disease are less, but postnatal manifestations are more severe deformities, especially on the face. Common cleft lip, cleft palate, small eye deformity with other defects in the eye. However, the degree of hypoplasia varies, and in addition, some intrinsic deformities are optional. Cranial scalp ulcer, deafness, multi-finger (toe), finger flexion overlap, narrow and convex nails, through the hands can help diagnose. Children may have forebrain dysplasia and lack of olfactory leaves.

The items described in the Trisomy 18 Differential Diagnosis Section should also be identified with the intrinsic. Cases with severe facial and forebrain defects have been seen, but there are no abnormalities in chromosomes, and cases of trisomy 13 may have no facial defects. Chromosome examination can be identified.

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