Osteogenesis Imperfecta

Osteogenesis Imperfecta


  • Brittle Bone Disease
  • Ekman-Lobstein Disease
  • Lobstein Disease (Type I)
  • OI
  • Vrolik Disease (Type II)

OI occurs about once in every 10,000 births and the incidence is about the same worldwide.

Osteogenesis Imperfecta is a group of disease characterized by extremely fragile bones that break easily often without any apparent cause. This disease is due to the abnormality of the connective tissue and it is a genetic disorder. In most cases, the various forms of osteogenesis imperfecta are inherited as Autosomal dominant traits.

The mutation is found on the COL1A2 gene on the long arm of chromosome 7 and/or the COL1A1 gene on the long arm of chromosome 17.
Four main types of OI have been identified. OI type I is the most common and the mildest form of the disorder. OI type II is the most severe. The symptoms of OI vary greatly from case to case and even among members of the same family. A person may have just a few or several hundred fractures in a lifetime.

Some of the features seen in patients of OI are

  • Stature is may be normal in mild forms. But in severe form (Type II ) body stature is small with underdeveloped lungs.
  • Type II variety is lethal shortly after birth.
  • Loose joints and low muscle tone.
  • Tendency towards spinal curvature.
  • Brittle teeth.
  • Sclera (white of eye) has blue, purple or gray tint.
  • Hearing loss may be present starting in 20s or 30s.
  • Collagen may be normal in Type I with amount less than normal. In other types the collagen in improperly formed.
  • Triangular face.

Most cases of OI are caused by autosomal dominant genetic defect. Some children with OI inherit the disorder from a parent. Other children are born with OI even though there is no family history of the disorder. In these children, the genetic defect occurred as a spontaneous mutation. A person with OI has 50% chance of passing the disorder to his or her children.

The prognosis for this disease depends on various factors especially the severity of the symptoms. Despite disability most of the persons lead productive life.

There is no cure yet for this disease. The main management involves around managing symptoms, preventing fractures, developing optimal bone and muscle mass, maximizing mobility.

Rodding surgery is frequently used in OI patients. In this procedure metal rod is inserted through the length of long bones to prevent and correct deformities and strengthen the bones.

Persons with OI should exercise as much as possible. The best exercise is swimming and walking. It is advisable to maintain healthy weight have nutritious diet and avoid intoxicants.

This entry was posted in Diseases & Conditions, Genetics and tagged by Manbir & Gurpreet. Bookmark the permalink.

About Manbir & Gurpreet

Gurpreet Kaur’s journey in this world .... Gurpreet Kaur was a Musician. She was a singer and a composer of music. Her interest was composing and singing Gurbani Shabads in Indian Classical style. She sang Shabads in All the Raags mentioned in Sri Guru Granth Sahib Ji. She also taught Gurmat Sangeet at Gurmat Gian Missionary College, Jawadi, Ludhiana. Elder child to Pushpinder Kaur and Dr. Brig. Harminder Singh, was born in Amritsar on 13th Jan 1962. She attended various convent schools as a child because her father would get frequent Army postings as a dental surgeon. She graduated with Music Honors from Govt. College for Women, Chandigarh. Music was her hobby and she composed and sang Raag based Gurbani Shabads. Doing Kirtan was part of growing up nurtured by her parents. She learned music from her father Dr. Brigadier Harminder Singh who was a dental surgeon in Indian Army and a very good singer himself. Gurpreet’s Bhua (father’s sister), Ajit Kaur retied as a Head of Department of Music from Govt. College for Women Ludhiana, and was a renounced Punjabi singer of her time. Gurpreet Kaur also learned nuances of Indian Classical Music from Pandita Sharma. She was a mother of three children, and a grandmother. Her daughter Keerat Kaur is a Computer Engineer. Her two sons Gurkeerat Singh and Jaskeerat Singh are doctors in USA. Her daughter Keerat Kaur too was part of her group ~ Gurmat Gian Group. Gurpreet Kaur left this world at the age of 54yrs on 12th Sept 2016 in Baltimore USA. She had recorded around 25 cds of Gurbani Keertan. 'Raag Ratan' Album (6 CDs) is a Compilation of Shabads in All the 31 Sudh Raags of Sri Guru Granth Sahib Ji. 'Gauri Sagar' Album (3 CDs) is a Compilation of All forms of Raag Gauri in Sri Guru Granth Sahib Ji. 'Nanak Ki Malhaar' ~ ((3 CDs) is an album of Raag Malhar Shabads in various forms of Malhar. 'Gur Parsaad Basant Bana' ~ (3 CDs) is an album of Shabads in Raag Basant sung in various forms of Raag Basant. Har Ki Vadeyai Sarni Aayea Sewa Priya Kee Preet Piyaree Mohan Ghar Aavho Karo Jodariya Mo Kao Taar Le Raama Taar Le Tere Kavan Kavan Gun Keh Keh Gawan Mera Baid Guru Govinda Saajanrraa Mera Saajanrraa

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