Causes and risk factors
Marie-Sainton disease is caused due to genetic mutation. It is an autosomal dominant condition. It means only one defective gene from either parent can cause development of this disease. Affected person has 50% chance during pregnancy of passing the disease to the child.
Clinical presentation
The symptoms of Marie-Sainton disease vary from person to person; they are – There is delayed closing of the fontanels (space between skull bones). Bulging of the forehead, wide-set eyes (hypertelorism) is observed. Collar bones (clavicles) can be partly or completely missing. In some cases, affected person can bring both the shoulder to touch each other in the center of the chest. Broad mandible, supernumerary teeth, failure of eruption of permanent teeth. There are short wide fingers and broad thumbs, short forearms, flat feet, knock knees. Scoliosis can be seen. Narrow pelvis and abnormal shape of the pelvic bones is present.
Investigations
Medical history by the patient and clinical examination by the doctor helps in diagnosis. DNA testing is required to detect the disease before birth in case of positive family history. After the birth, diagnosis is made upon clinical exam and x-ray findings.
Treatment
Marie-Sainton disease is treated with surgery to correct the deformity. Timely dental procedures are required to improve appearance of teeth and improve ability to chew.
Necessary protective headgears are advised to protect open fontanels in case of a head injury. Calcium and vitamin D supplementation is prescribed to correct low bone density. Speech therapy may be needed in some cases.
Complications
Complications such as scoliosis, osteoporosis may occur. Women with Marie-Sainton disease are more likely to need a caesarean section to give birth.
When to Contact a Doctor
One must consult a doctor if there is delayed closing of the fontanels, bulging of the forehead, and failure of eruption of permanent teeth.
Prevention
Couple with a family history of the disease should seek genetic counseling before conceiving.
Systems involved
Musculoskeletal system, locomotor system,
Organs involved
Bones, teeth, eyes, head, shoulders, chest, knees, spine, pelvis, feet, hands
