The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including[books.google.com]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
With this picture and a child presenting with multiple bone fractures with hyperplasic callus formation, generalized osteopenia and normal serum biochemical parameters, the diagnosis of osteogenesis imperfecta type V was made.[jpgmonline.com]
Presents at preschool age (tarda). Hearing deficit in 50%.[orthobullets.com]
A five-month-old male child born of second-degree consanguinous marriage was admitted with complaints of developmentaldelay and fractures of both arms. Antenatal, natal, postnatal periods were uneventful.[jpgmonline.com]
Significant care issues that arise with OI Type I include gross motor developmentaldelays, joint and ligament weakness and instability, muscle weakness, the need to prevent fracture cycles, and the necessity of spine protection.[oif.org]
. • Significant care issues that arise with OI Type I include gross motor developmentaldelays, joint and ligament weakness and instability, muscle weakness, the need to prevent fracture cycles, and the necessity of spine protection.[ipodindia.org]
A subset of patients have been seen with brain malformations and developmentaldelay.[emedicine.medscape.com]
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: confirmatory report in a sibship with very early onset, osteoporosis and developmentaldelay. Eur J Med Genet. 2015;58(12):637–641. 79.[dovepress.com]
There was a soft tissue swelling in the right arm. Investigations showed Hb concentration 11 gm/dl, Total leukocyte count: 6400 cells/cmm, Differential count P60%, L 40%, ESR 11 mm/hr, Blood Urea Nitrogen 16 mg%, S.[jpgmonline.com]
(d) Photograph documenting the swelling of the right thigh. Reproduced from Am J Hum Genet, Vol 91, Semler O, Garbes L, Keupp K, et al.[iofbonehealth.org]
Patients may have the complication of hyperplastic callus appearing as swollen, painful vascular swelling over the long bones. Types VI-VII See 'Classification', above.[patient.info]
Family 2 An 18-year-old girl (II1) with OI presented to our clinic with chief complaints of a traumatic progressive swelling and pain in the right thigh. She had experienced her first fracture in the forearm at the age of 4 years.[journals.plos.org]
Caffey disease is a self-limited acute inflammatory disease characterized by acute inflammation with swelling of soft tissues and hyperostosis of the outer cortical surface in early infancy ( 36 ).[frontiersin.org]
There was a softtissueswelling in the right arm. Investigations showed Hb concentration 11 gm/dl, Total leukocyte count: 6400 cells/cmm, Differential count P60%, L 40%, ESR 11 mm/hr, Blood Urea Nitrogen 16 mg%, S.[jpgmonline.com]
Complications can arise for babies and children with OI owing to their small stature, difficulties in breathing and swallowing in the neonatal period (severe babies), limitedmobility and low appetite (particularly at times of fracture/surgery and for[dovepress.com]
Current research activities include: heartdisease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity[books.google.com]
Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity[books.google.com]
Osteogenesis imperfecta (OI) or Brittle bone disease is the most common genetic cause of osteoporosis. [5], [6] The OI is caused by structural or quantitative defect in type I collagen.[jpgmonline.com]
., 2012). (610967) MalaCards based summary : Osteogenesis Imperfecta, Type V, also known as osteogenesis imperfecta type 5, is related to brittle bone disorder and osteoporosis.[malacards.org]
What Is Osteoporosis? Osteoporosis is a condition in which the bones become less dense and more likely to break. Fractures (broken bones) from osteoporosis can result in significant pain and disability.[onlymyhealth.com]
New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrentfractures are included.[books.google.com]
Introduction: Osteogenesis imperfecta is a rare disease leading to immobility by recurrentfractures, immobilization, short stature and muscular weakness.[bone-abstracts.org]
Type IV This may be apparent at birth with fractures or bowing of leg bones or recurrentfractures on walking. The sclera is normal colour in childhood with reduced stature and variable disability.[patient.info]
Clinical Characteristics General description (for patients): Osteogenesis imperfecta (OI) is the most common disease causing recurrentfractures in children. It can also be responsible for fractures in adults as well.[wohproject.org]
He was a known case of osteogenesis imperfecta tarda type IV with characteristic features of short stature, brittle bones, hypermobile joints, kyphoscoliosis with history of recurrentfractures of long bones for which he was operated twice under general[ijaweb.org]
Other cases resemble OI Type II, except that infants have white sclerae, smallheads and round faces. It is common for leg bones, humerus and femur to be short. Short stature is common. Coxa vara is common.[oif.org]
X-ray features Skull shows often smallhead circumference and Wormian bones. Back reveals severe scoliosis. Extremities are similar to OI Type IV and also show popcorn metaphyses, severely under tubulated long bones.[ijem.in]
. • Other cases resemble OI Type II, except that infants have white sclerae, smallheads and round faces. • Short humeri and femora are common. • Short stature is common. • Coxa vara is common. • OI Type VII results from recessive inheritance of a mutation[ipodindia.org]
The mother noticed visualimpairment and deafness and child was sleeping with eyes half open. On examination, the child had microcephaly, flat occiput and dysmorphic facies (microphthalmia, low set ears and micrognathia).[jpgmonline.com]
On examination, the child had microcephaly, flat occiput and dysmorphic facies (microphthalmia, lowsetears and micrognathia). Vision and hearing were impaired on clinical testing.[jpgmonline.com]
Communicatinghydrocephalus, basilar invagination and other Neurologic features in osteogenesis imperfecta. Neurology. 1993;43:2603-8. 4. Zhou LJ, Khong PL, Wong KY, Ooi GC.[jpgmonline.com]
Communicatinghydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta. Neurology 1993;43:2603-8. 7. Charnas LR, Marini JC. Neurologic profile in osteogenesis imperfecta. Connect Tissue Res 1995;31:S23-6. 8.[pediatricneurosciences.com]
Thorough preoperative workup including patient coagulation profile, cardiorespiratory workup including electrocardiography, echocardiography, pulmonary function tests are mandatory.[apicareonline.com]
Osteogenesis Imperfecta: Differential Diagnosis & Workup. . Website updated: 2008. Website accessed: April 5, 2010. Gahagan S, Rimsza ME. Child Abuse or Osteogenesis Imperfecta: How Can We Tell?. Journal of Pediatrics; 88(5): 987-992. 1991.[physio-pedia.com]
Establishing a diagnosis As with any disorder, a detailed history is a crucial element of the diagnostic workup.[nature.com]
This treatment involves inserting metal rods through the length of the long bones to strengthen them. The treatment also prevents and/or corrects deformities.[checkorphan.org]
Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity[books.google.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
Pamidronate treatment in severe osteogenesis imperfecta in children under 3 years age. J Clin Endocrinol Metab 2000;11:85-90.[jpgmonline.com]
Prognosis - Osteogenesis imperfecta- type 5 The prognosis for an individual with OI varies greatly depending on the number and severity of symptoms.[checkorphan.org]
Prognosis: The prognosis often depends on the type of OI and thus the severity of the disease. Type I patients often have a normal life expectancy.[gwumc.edu]
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]
A metal rod is inserted in the bones to strengthen, correct, and prevent deformity. ( 8, 9, 10 ) Osteogenesis Imperfecta Prognosis The prognosis varies depending on the number and severity of the symptoms.[healthool.com]
Etiology The causal gene for OI type V is not known Differential diagnosis A clinically similar but histologically different type of OI type V (sometimes described as OI type VI) has been described and is thought to be autosomal recessive but the causal[orpha.net]
Such a situation is easily understandable when it is considered that in many instances of abnormality of the bones there is no known etiology, and in some cases there is failure to represent even a recognized syndrome.[pubs.rsna.org]
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]
ORPHA:216828 Synonym(s): OI type 5 Prevalence: Inheritance: Autosomal dominant or Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: Q78.0 OMIM: 610967 UMLS: C1970414 C2931093 MeSH: C536046 GARD: 8699 MedDRA: - Summary Epidemiology To date 47[orpha.net]
Osteogenesis imperfecta: Epidemiology and pathophysiology. Current Osteoporosis Reports, 5 (3), 91–97.[unmc.edu]
Epidemiology • In OI, defective collagen means that the bones are extremely fragile and can fracture as a result of everyday movements. • Simple movements such as opening a door or turning over in one’s sleep can cause these fractures. 5.[de.slideshare.net]
Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2007;5(3):91–7. . Accessed 5 Apr 2017 View Article PubMed Google Scholar Van Dijk FS, Sillence DO.[humgenomics.biomedcentral.com]
However, in the past 10 years discoveries of further (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology [ 1 ].[patient.info]
Pathophysiology of disease: an introduction to clinical medicine. 7th ed. USA: McGraw-Hill; 2014. 9. Robichon J, Germain JP. Pathogenesis of osteogenesis imperfecta. Can Med Assoc J 1968;99:975-9. 10. Avioli LV, Krane SM.[pediatricneurosciences.com]
People with OI are encouraged to exercise as much as possible to promote muscle and bone strength, which can help prevent fractures.[checkorphan.org]
Once the bones are healed, the patient should undergo low impact exercises to increase mobility and prevent the possibility of future fracture.[healthool.com]
Osteoporosis can often be prevented. However, if undetected, it can worsen over many years without symptoms.[onlymyhealth.com]
Brennan, who suffers from osteogenesis imperfecta (brittle bone disease), spent several years writing about his attraction to eugenics, on the theory that it could have prevented his suffering by preventing his birth.[getreligion.org]