EUROPEAN JOURNAL OF
PHARMACEUTICAL AND MEDICAL RESEARCH

( An ISO 9001:2015 Certified International Journal )

An International Peer Reviewed Journal for Pharmaceutical, Medical & Biological Sciences

An Official Publication of Society for Advance Healthcare Research (Reg. No. : 01/01/01/31674/16)

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 ISSN 2394-3211

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 ICV - 79.57

Abstract

CURRENT APPROACH TO OSTEOGENESIS IMPERFECTA: CASE STUDIES OF A MOTHER AND SON WITH OSTEOGENESIS IMPERFECTA

Tuba Tülay KOCA*, Tolga Ba?lan, Ülkü Demir, Gülbahar Saraç, Ahmet U?ur Boz

ABSTRACT

Osteogenesis imperfecta (OI) is a genetic disorder that causes bone fragility and fractures in children and adults. OI type 1 is frequently associated with the mutations in collagen genes. It affects many tissues and organs which contain type 1 collagen. OI is classified clinically and radiologically into four major groups based on phenotype and inheritance pattern; however, rare subgroups with unique features have also been described in the recent years. A 38-year-old female patient was admitted to the clinic with a complaint of back pain. Her medical history comprised minor trauma and frequent fractures (shoulder and ankle). The patient was fair-skinned, and her physical examination revealed an increase in thoracic kyphosis, blue sclera, and joint hyperextensibility. The total vertebra T score and Z score were –4.0, and –3.5, respectively, in the dual-energy x-ray absorptiometry examination. The patient was a first-degree relative of her husband. The medical history of her 16-year-old son showed seven fractures (both shoulders, ankle, right wrist, and fingers of the right hand), which were caused by minor traumas. His physical examination findings included bluish sclera, trigonocephaly, triangular face, pectus carinatum, and joint hyperextensibility. Systemic involvement was evaluated in both the patients. The different histories and phenotypic features of the mother and her son with OI plays an important role in understanding the nature of the disease and current approaches.

Keywords: Osteogenesis imperfecta, osteoporosis, pathologic fracture.


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Google Scholar Indian Science Publications InfoBase Index (In Process) SOCOLAR, China Research Bible, Fuchu, Tokyo. JAPAN International Society for Research activity (ISRA) Scientific Indexing Services (SIS) Polish Scholarly Bibliography Global Impact Factor (GIF) (Under Process) Universal Impact Factor International Scientific Indexing (ISI), UAE Index Copernicus CAS (A Division of American Chemical Society) USA (Under Process) Directory of Open Access Journal (DOAJ, Sweden, in process) UDLedge Science Citation Index CiteFactor Directory Of Research Journal Indexing (DRJI) Indian citation Index (ICI) Journal Index (JI, Under Process) Directory of abstract indexing for Journals (DAIJ) Open Access Journals (Under Process) Impact Factor Services For International Journals (IFSIJ) Cosmos Impact Factor Jour Informatics (Under Process) Eurasian Scientific Journal Index (ESJI) International Innovative Journal Impact Factor (IIJIF) Science Library Index, Dubai, United Arab Emirates Pubmed Database [NLM ID: 101669306] (Under Process) IP Indexing (IP Value 2.40) Web of Science Group (Under Process) Directory of Research Journals Indexing Scholar Article Journal Index (SAJI) International Scientific Indexing ( ISI ) Scope Database Academia