Skeletal abnormalities
June 11th, 2008 Posted by: admin
Definition
Skeletal limb abnormalities is a very broad descriptive term. There are a variety of possible abnormalities of the arms or legs (limbs) that can be caused by underlying defects in the skeletal structure.
Considerations
Skeletal limb abnormalities may result from:
- Metabolic diseases
- Malnutrition (inadequate amounts of a vitamins, proteins, calcium, or other nutrients)
- Genetic diseases and chromosomal abnormalities
- Problems experienced by a fetus before birth — exposure to drugs and medications, infections, positioning, or injury
- Birth trauma
- Cancers
The term is most often used to describe defects associated with genetic, chromosomal, and intrauterine events and is often present at birth.
Limb abnormalities can also develop after birth as in the case of rickets, renal rickets, and other diseases that can cause profound changes in the skeletal structure after birth.
Syndromes and diseases affecting the skeletal system
Skeletal abnormalities appear and are a state caused by different pathological mecanisms in the following diseases:
- Genetic and chromosomal
- Marfan’s syndrome
- Achondroplasia
- Ellis-van Creveld syndrome
- Poland sequence
- Down’s syndrome
- Prader-Willi syndrome
- Basal cell nevus syndrome
- Trisomy 13
- Rubinstein-Taybi syndrome
- Apert syndrome
- Fetal exposure to drugs or medications
- Thalidomide causes the upper part of the arms or legs to be missing
- Aminopterin causes shortness of the forelimb
- Intrauterine conditions
- Limb amputation from amniotic band (disruption sequence)
- Club foot
Diagnose
Diagnosis of this condition is based on a family history, medical history, and thorough physical evaluation. To decide whether the patient has a certain syndrome or disease, further investigations might be neccessary.
Medical history questions documenting skeletal limb abnormality in detail may include:
- Family history
- Have any family members had similar skeletal abnormalities?
- Is there any family history of a disorder associated with skeletal limb abnormality (see common causes in this document).
- History of the pregnancy
- Were there any troubles with the pregnancy?
- What drugs or medications were taken during the pregnancy?
- Other
- What other symptoms or abnormalities are also present?
Treatment
The treatment that your physician would recommend you / your child depends on the disease / factor that caused the abnormalities and how severe tehy are.
Prognosis
Most of the abnormalitis can be treated and with a preventive behaviour (nutrition, exercises, limited effort, medication etc) the life of the patient can develop as the one of a healthy person.
Is very important to detect the disease as soon as posible, in order to treat it and to be under a medical surveilance. So, go to the doctor if you have any suspicions, follow the recomandations and do the neccessary tests regularly.