Patients with OI type IIA present with broad ribs with multiple fractures, continuous beaded ribs and severe undermodeling of the femur, OI type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some undermodeling [orpha.net]

Case presentation We report a case of a 2-days-old newborn female of African descent who presented with pathognomonic features of OI type II. [kenkyugroup.org]

Presents at preschool age (tarda). [orthobullets.com]

He is Executive Advisory Editor of Bone Research (2013-present). [books.google.com]

We report 2 unrelated children who presented with long bone fractures and were suspected of having suffered physical abuse with removal of parents’ custodial rights. Presenting problem: Patient 1 was the second child of first cousins. [bone-abstracts.org]

• Crying

  Case Presentation A 2-days-old newborn female of African descent was referred to our institution from a private facility due to abnormal body posture and excessive crying. [kenkyugroup.org]

  Patient discussion about osteogenesis imperfecta Q. is their any way to cure osteogenesis imperfecta my son has this bone disorder and can;t stand to see him cry thank you for any help A. as far as i know- OI is a genetic problem. today there is no cure [medical-dictionary.thefreedictionary.com]

• Constipation

  Additionally, OI patients may display a wide range of multi-systemic features including; constipation, dental problems, hearing loss, neurological disorders, ocular anomalies, respiratory and swallowing difficulties [1]. [kenkyugroup.org]

  […] deformities Fractures (with minimal or no trauma, after ruling out non-accidental trauma such as abuse; no known bone disorder) Joint laxity (ligamentous laxity) Short stature (shorter stature than anticipated based on the unaffected family) Bowed legs Constipation [eyewiki.aao.org]

  […] may manifest itself with one or more of the following findings: Blue sclerae Triangular facies Macrocephaly Hearing loss Defective dentition Barrel chest Scoliosis Limb deformities Fractures Joint laxity Growth retardation Additional features, such as constipation [emedicine.medscape.com]

  Other medical problems consequent on immobility, such as constipation, will also require appropriate management. [dovepress.com]

  A 20th-century illustration of a severe case of a "S" shaped scoliosis Symptoms associated with scoliosis can include: Pain in the back, shoulders, neck and buttock pain nearest the bottom of the back Respiratory or cardiac problems in severe cases Constipation [en.wikipedia.org]

• Dysphagia

  Neurological manifestations include macrocephaly, hydrocephalus, basilar invagination (will present as headache, lower cranial nerve palsies, dysphagia, quadriparesis, ataxia, and nystagmus) and cervical spine kyphosis (can cause compression of cervical [journals.lww.com]

• Hearing Problem

  The diversity of the clinical phenotypes of discolored teeth, blueness of the sclera, back and joint pain, cardiovascular disease, Diabetes type II, hearing problems and a long list of orthopedic problems are have to be considered. [journals.lww.com]

  None of the patients presented with blue sclerae or hearing problems, and only one girl (F7II1) was noted to have dentinogenesis imperfecta (Figure 3E). [frontiersin.org]

• Prenatal Fractures

  It is characterized by a susceptibility to bone fractures with a severity ranging from slight fracture to prenatal fracture. [spandidos-publications.com]

  Osteogenesis Type III (COL1A1 or COL1A2) Extremely fragile malformed bones and multiple fractures characterize OI type III. Fractures are often present at birth and x-rays may show signs of healing fractures that occurred prenatally. [rarediseases.org]

• Vertebral Fractures

  Patient 1 developed vertebral fractures aged 5 yrs. Pamidronate was started at 6 yrs. Patient 2 developed unequivocal vertebral wedging by 2.5 yrs, underwent bone biopsy and was started on zoledronic acid. [bone-abstracts.org]

  T Reduction of height of vertebral bodies, scoliosis and rib deformities. U HPC after femur fracture. Case 7: V, W Patient images. X, Y Reduction of height of vertebral body and rib irregularities. Z CIM. [karger.com]

  fracture associated with downward force causing effectively shatterning of the vertebral body of the osteoporotic vertebrae. [journals.lww.com]

  Source: Imaging rheumatology-David Scoliosis is uncommon but multiple vertebral fractures are common in Type I OI. Biconcave vertebral bodies(fish vertebrae) Source: Net. [de.slideshare.net]

  This type is characterised by blue sclera and vertebral fractures, leading to mild scoliosis. Functional level and intellectual development, as well as life expectancy, are normal. [ncbi.nlm.nih.gov]

• Macrocephaly

  Clinically, OI type II is associated with intrauterine fractures, low birth weight, short limbs, small chests, soft skulls, blue sclera and macrocephaly as it was observed in the case presented [1]. [kenkyugroup.org]

  Macrocephaly may be present. Microcephaly is rarely present. Infants with OI Type II usually die within weeks of delivery. A few may survive longer. Cause of death is usually respiratory and cardiac complications. [oif.org]

  X-ray features Skull shows relative macrocephaly and Wormian bones. Back reveals mild-to-moderate scoliosis. [journals.lww.com]

  […] severe Short stature Blue sclera (thought to be due to differential scattering of light because of differences in the connective tissue) tends to whiten with age Loose joints and poor muscle development Barrel-shaped rib cage Triangular face Relative macrocephaly [en.wikibooks.org]

• Bowing of The Long Bones

  Management options for non-lethal types include: surgical correction of deformities and the prevention of fractures intramedullary rods with osteotomy are used to correct severe bowing of the long bones intramedullary rods are also recommended for children [radiopaedia.org]

  The bones in OI Type 1 are normally modeled, usually with no bowing of the long bones, and central vertebral compressions are uncommon [7, 8, 9]. [jocr.co.in]

  Radiologically, presence of generalized osteoporosis, thin cortices and bowing of the long bones, multiple cystic areas, codfish vertebra, and wormian bones are characteristic findings [1]. [kenkyugroup.org]

  Fractures are present at the time of birth and the long bones of the upper arms and legs develop bowing. Osteogenesis Imperfecta Type XVII (SPARC) Type XVII is severe. [rarediseases.org]

  Frequent fractures of the long bones, the tension of muscle on soft bone, and the disruption of the growth plates lead to bowing and progressive malformation. [oif.org]

• Cesarean Section

  She was born to a 28 years old primigravida by elective cesarean section at 36 weeks gestation due to breech presentation. She weighed 2,380 grams and had an Apgar score of 8/10 and 9/10 at one and five minutes respectively. [kenkyugroup.org]

  The birth was by emergency cesarean section due to fetal distress. Through the Capurro test, a gestational age of 37 weeks is estimated; APGAR was 7 and 8 at one and five minutes respectively. [revistamedica.com]

  Delivery of an infant with OI by cesarean section or by vagina has about the same rate of complications for each type of OI. [ncbi.nlm.nih.gov]

  The patient was born by cesarean section with polyhydramnios at the 39th week of gestation with a birth weight of 2800 g, length of 48 cm, and head circumference of 35 cm. [jocr.co.in]

  Case Description Case 1 The boy was born from non-consanguineous parents at term by cesarean section without perinatal problem. He could sit alone at 9 months and walk alone at 12 months. [raredisorders.imedpub.com]

(A) Before start of treatment. (B) After two years treatment. [adc.bmj.com]

What treatment can be given? The mainstay of treatment is competent orthopaedic care at the time of fractures, to ensure that each fracture heals in a good position. [netdoctor.co.uk]

These measurements were made immediately before treatment and after one or two years of treatment. [nejm.org]

Other potential treatment modalities could include gene therapy or mesenchymal cell transplant. In the future, treatment choices will be further individualized in order to reduce disease morbidity and mortality. [indiana.pure.elsevier.com]

For the last three years the patient has not received any specific treatment. [ccmbm.com]

Prognosis Functional prognosis depends on the severity of the disease and on the quality of management. Vital prognosis depends on the severity of any respiratory complications associated with spinal deformities. [orpha.net]

The prognosis of type II is very unfavorable, mainly due to pulmonary insufficiency ralated to the small thorax and rib fractures. [thefetus.net]

This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. [ncbi.nlm.nih.gov]

Prognosis is very variable depending on type ranging from being uniformly lethal from type II to a slight reduction in life expectancy for type I. [radiopaedia.org]

Etiology OI type IV can be autosomal dominant and caused by mutations in the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively) or it can be autosomal recessive and caused by mutations of the PPIB gene (15q21-q22) (sometimes described as OI [orpha.net]

As noted recently, measurement of hearing loss and the determination of etiology of the hearing loss presents some challenges in OI [ 18 ]. [hindawi.com]

The sequence of diverse pathological events recorded within each family would be almost incomprehensible without a proper etiological understanding of the natural history of each child/family deformity that led to their occurrences. [journals.lww.com]

Summary Epidemiology The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type IV is unknown. [orpha.net]

Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2007;5(3):91-7. 5. Ромеро Р., Пилу Дж., Дженти Ф., Гидини А., Хоббинс Дж. С. Пренатальная диагностика врожденных пороков развития плода. [thefetus.net]

Epidemiology[edit | edit source] The estimated incidence is approximately 1 in every 12,000-15,000 births. OI occurs with equal frequency among males and females and across races and ethnic groups. [physio-pedia.com]

Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2007;5(3):91-7. 5. Ромеро Р., Пилу Дж., Дженти Ф., Гидини А., Хоббинс Дж. С. Пренатальная диагностика врожденных пороков развития плода. [thefetus.net]

Mutations can also be caused by CRTAP or PH3H1(LEPRE1) in an autosomal recessive pattern. [14] Pathophysiology The pathophysiology of osteogenesis imperfecta is primarily due to a dysfunction in collagen and is classified under connective tissue diseases [eyewiki.aao.org]

The basic pathophysiology for OI is the mutation in the gene coding for type I collagen [3]. The most widely accepted classification was proposed by Sillence et al. in 1979 [4]. [hindawi.com]

Genetic_DisordersOriginal Editors - Barrett Mattingly from Bellarmine University's Pathophysiology of Complex Patient Problems project. [physio-pedia.com]

Etiology Pathophysiology can result from decreased collagen secretion production of abnormal collagen leads to insufficient osteoid production physeal osteoblasts cannot form sufficient osteoid periosteal osteoblasts cannot form sufficient osteoid and [orthobullets.com]

To prevent further problems, it is recommended that a child begin moving or using the affected area as soon as possible. [physio-pedia.com]

Treatments for preventing or correcting symptoms may include: Bisphosphonate medicines. These are medicines that help to strengthen bones and prevent fractures. They may be used in most types of OI. [hopkinsmedicine.org]

At the end of surgery, closure of the sclerotomy wounds with partial-thickness scleral sutures requires care to prevent perforation. [jamanetwork.com]

Prevention of vitamin D and calcium deficiency is essential throughout life. [orpha.net]