Thumb with soft tissue but no bone

Introduction

Introduction Skeletal deformities can affect both upper limbs and are heavier on the left side. The variation or lack of forearm, wrist and temporal bone is the most common. The temporal carpal bone can make the base of the first metacarpal close to the midline due to delayed ossification. It is juxtaposed with other metacarpals. The fish can disappear, because the thumb is at the same level as other limbs. Therefore, the function of the palm is lost, and the variation of the thumb is a characteristic change of the disease. It is usually a subluxation, a finger, a three-point thumb, a distal curve to the ulnar side, a bifurcation, a short or absent or a thumb with only soft tissue and no bone. Cardiac-limb syndrome, also known as Holt-Oram syndrome, atrio-digital syndrome, upper extremity cardiovascular syndrome, familial heart and Upper limb defects, atrial dysplasia, and atrio-digital dysplasia syndrome. The disease is an autosomal dominant hereditary disease characterized by cardiovascular malformations and skeletal malformations.

Cause

Cause

(1) Causes of the disease

Often family history, is an autosomal dominant hereditary disease.

(two) pathogenesis

1. Embryology factors The skeletal malformation of this disease occurs in the upper limbs with its embryological basis. The occurrence of upper limb buds and the primary differentiation process of the primary cardiovascular origination start from the 4th week of the embryo, and both are in 2 to 3 weeks. Completed inside. Therefore, the upper limbs and the heart may be affected by certain factors and mutated. According to Gegenbaur's original wing theory, the ulna and its vicinity are the backbone of the original fin line. The humerus is one of the other four accessory lines, which occurs before the ulna and then disappears, so the temporal bone is more susceptible. Since the lower limbs are later than the upper limbs, the lower limbs are not affected. This may help explain why the temporal bones of this symptom are more susceptible.

2. Genetic factors Generally, this disease is autosomal dominant, but there are also reports of some single cases. Only a few people reported that there were minor variations in the 16th pair of chromosomes of the patient, and most people proved that the nucleus of the patient's cells was normal. In this family of symptoms, all patients with congenital heart disease are accompanied by varying degrees of upper extremity deformity, while those with upper extremity deformities may not have congenital heart disease, but there is no difference in the heritability of the offspring. For patients with this symptom, the chance of their offspring is about 50%.

3. Drugs affecting pregnancy taking anti-epileptic drugs within one month, can lead to fetal disease.

Examine

an examination

Related inspection

Systemic bone disease investigation

1. Family survey: Family surveys were conducted on cases of congenital heart disease and upper limbs, including thumb dysplasia and defects. There are four families and nine people in a family.

2. Echocardiography, cardiac catheterization, electrocardiogram, X-ray, dye dilution curve, etc. to determine the type of congenital heart disease.

3. Skeletal X-ray and chromosome examination.

Heart failure can occur with infective endocarditis. Loss of palm function, may be associated with high bow, cleft palate, short stature, facial dysplasia, facial hemangioma, bilateral pupil size, external auditory canal occlusion and gastrointestinal and genitourinary malformations.

Diagnosis

Differential diagnosis

The condition should be differentiated from upper limb-heart malformation caused by Ma Fang syndrome, Fanconi anemia, tongue-like dementia and other chromosomal abnormalities.

1. Cardiovascular malformations This disease is associated with cardiovascular abnormalities accounted for about 60% to 70%, and patients with the same family have different cardiac malformations. The most common cardiovascular malformations are atrial septal defect (multi-line II, but also I- and II-type) and ventricular septal defect, followed by cardiac conduction system abnormalities and cardiomyopathy, and patent ductus arteriosus, large blood vessels Transposition, coronary abnormalities, mitral stenosis or prolapse, pulmonary stenosis, and tricuspid atresia are rare. Clinically, there may be many symptoms and signs of congenital heart disease, such as palpitations, shortness of breath and fatigue. In severe cases, congestive heart failure and concurrent infective endocarditis may occur. The main signs were 2 to 3 or 3 to 4 intercostal stimuli and systolic murmurs in the left sternal border, with tremors, second percussion and division of the pulmonary valve, systolic murmur in the pulmonary valve area or diastolic murmur in the tricuspid region.

2. Skeletal and muscular malformations Skeletal deformities can affect both upper limbs and are heavier on the left side. The variation or lack of forearm, wrist and temporal bone is the most common. The temporal carpal bone can make the base of the first metacarpal close to the midline due to delayed ossification. It is juxtaposed with other metacarpals. The fish can disappear, because the thumb is at the same level as other limbs. Therefore, the function of the palm is lost, and the variation of the thumb is a characteristic change of the disease. It is usually a subluxation, a finger, a three-point thumb, a distal curve to the ulnar side, a bifurcation, a short or absent or a thumb with only soft tissue and no bone.

Was this article helpful?

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.