What Is Holt-Oram Syndrome?

Holt-Oram syndrome is an autosomal dominant inherited disease that manifests as skeletal and cardiovascular system abnormalities, mainly including radial or hypoplasia, various congenital heart malformations such as secondary foramen atrial septal defect, and ventricular septum. Defect. Other skeletal deformities may include dysplasia of the upper arm and scapula, deformities of the thumb and fingers, and deformities of seal limbs. There was no significant relationship between limb malformation and the severity of cardiac malformation.

Holt-Oram syndrome

Holt-Oram syndrome is an autosomal dominant inherited disease that manifests as skeletal and cardiovascular system abnormalities, mainly including radial or hypoplasia, various congenital heart malformations such as secondary foramen atrial septal defect, and ventricular septum. Defect. Other skeletal deformities may include dysplasia of the upper arm and scapula, deformities of the thumb and fingers, and deformities of seal limbs. There was no significant relationship between limb malformation and the severity of cardiac malformation.

Chinese name

Holt-Oram syndrome

Types of

An autosomal dominant genetic disease

which performed

Skeletal and Cardiovascular Malformations

mainly include

Missing or underdeveloped radius

Congenital hypoplasia or lack of radius can be divided into three types:

Type : Radial bone is completely absent. This type is the most common, accounting for more than 50%. The radius is completely undeveloped. The wrist is severely deformed due to the lack of radial support. The hand can be at right angles or close to the radial surface of the forearm. At the same time, the scaphoid bone, most of the horn bones, the first metacarpal bone, and the thumb phalanx are absent, resulting in severe hand deformities and absent thumb. If the thumb is present, it is mostly hypoplastic and suspended.

Type : Radial part is absent, often the distal part of the radius is undeveloped and absent, and the proximal part is underdeveloped, and fuses with the ulna to become a radial ulnar bone connection. The ulna is shortened, thickened, and curved, and its concave side points to the radial side. The radial wrist, first metacarpal, and thumb phalanx are also often absent, with severe hand deformities and absent thumb.

Type : Radial hypoplasia, only the radius is shortened slightly, the wrist joint is slightly deviated to the radial side, the scaphoid bone is poorly developed, and the thumb is sometimes poorly developed or absent. In severe cases, the radius is shortened moderately, the ulna becomes thicker and curved, the concave side faces the radial side, and the wrist joint is significantly deflected toward the radial side. Thumb is hypoplastic, suspended or absent.

Partial or complete absence of the radial bone is not difficult to diagnose with prenatal ultrasound, but if there is no systematic sequential sequential scan of each limb to the end of the limb, or if the fetal forearms and hands are not observed during prenatal ultrasound, missed diagnosis is inevitable . In addition, prenatal ultrasound diagnosis is relatively difficult for mild radial hypoplasia without other malformations. When abnormalities of the forearm bones (including the ulna and radius) or hands are found, detailed observation of the fetal body bones and other organs of the fetus should be performed to determine whether there are other structural deformities, which is also important for differential diagnosis.

1. When the forearm bone is absent, only one bone echo can be displayed on the longitudinal and cross-sectional views of the forearm, but the double bone echo cannot be displayed. The displayed bone echo is ulna or radius. To identify and identify, the ulna is on the same side as the small fish, and the hand is obviously deflected to the radial side. The failure to show the thumb can also help determine the bone in the forearm as the ulna. Non-radial.

2. When the radius is underdeveloped or partially absent, it can be shown that the radius is shortened significantly, and the shortening is obvious at the distal end. On the ultrasound image, the sound features of the two bones that are almost flush with the distal end of the normal ulnar radius disappear, and the radius is significantly shorter at the distal end In the ulna, the two are no longer flush at the distal end.

3. Different degrees of hand deformities can be displayed. Most of them only show four fingers. Thumbs are absent and cannot be displayed. Due to the lack of radial support, the hand is obviously deflected to the radial side, angled to the forearm, and is hook-shaped. It can be combined with the absence of the carpal bones and the absence of the first metacarpal bone. If the thumb can be displayed, the thumb is abnormal, dysplasia, small and abnormal.

4, may have shortened ulna, concave surface bending on the radial side.

5. May have shortened tibia and humerus, and may have varus deformity.

6. The surface three-dimensional sound image is of certain value in diagnosing this kind of malformation, and can more intuitively display the positional relationship between the hand and the forearm and the hand deformity.

7, Holt-Oram syndrome, in addition to radius loss or hypoplasia, also has congenital heart defects, often ventricular septal defects or atrial septal defects, but also other heart malformations, but rare. There may be other abnormal bone changes.

Absent or stunted radius can cause severe hand deformities and hand dysfunction, requiring multiple surgeries after birth. The severity varies and the prognosis varies. The prognosis varies with the severity of the associated malformations.