Romanian Journal of Oral Rehabilitation Vol. 7, Issue 4, October - December 2015

ASSOCIATION OF BILATERAL RADIOULNAR SYNOSTOSIS WITH OSTEOGENESIS IMPERFECTA TYPE 1 – CASE PRESENTATION Valeriu V. Lupu1, Mirabela Subotnicu1, Ancuța Ignat1, Gabriela Păduraru1*, Irina Naumcieff1, Bogdan Ciubară2, Marin Burlea1

1 Pediatrics Department, University of Medicine and Pharmacy ―Gr. T. Popa‖, Iasi, Romania 2 Anatomy Department, University of Medicine and Pharmacy ―Gr. T. Popa‖, Iasi, Romania Orthopaedics Clinic, ―St. Spiridon‖ Emergency Clinical Hospital, Iasi, Romania

*Corresponding author: dr. Gabriela Păduraru, 16 University st., Iasi, 700115, Romania Email: [email protected]

ABSTRACT Osteogenesis imperfecta (OI) is a group of rare congenital conditions characterized mainly by bone brittleness secondary to mutations in the genes encoding collagen. The medical history together with a clinical examination in detail of the fractures is highly important in directing the diagnosis towards OI. The authors present an OI case diagnosed in an 11-years old patient with a history of multiple fractures, with bone deformations, which associates a rare congenital malformation – bilateral radioulnar synostosis. This case needs multidisciplinary monitoring (pediatric, orthopaedic, genetic, psychologic).

Key words: osteogenesis imperfecta, congenital radioulnar synostosis, child.

INTRODUCTION the type of OI and on the patient’s age and is Osteogenesis imperfecta (OI) is a characterised by osteoporosis, bone brittleness, heterogenic group of conditions determined by bone deformations, joint hypermobility, defects in the quantity and quality production dentinogenesis imperfecta, blue sclerae, often in the collagen synthesis. The genetic deafness (usually emerging in adulthood). alteration of the conjunctive tissue is Currently, there are seven types of OI, whose determined by mutations in the genes severity varies from moderate to very severe, COL1A1 and COL1A2, which encode the with perinatal mortality (3). The variety of the chains alpha1 and alpha2 and collagen type 1 clinical picture (Table 1) depends on the (1, 2).It is one of the most frequent bone location of the mutations in the collagen gene, dysplasias with a prevalence of 1/10,000 to and it can be moderate (OI type 1), lethal (OI 1/20,000 births (2). It is an intra-family type 2), with severe bone deformations (OI transmitted, both autosomal dominant and type 3) or with moderate bone deformations recessive disease affecting equally genders, all (OI type 4) (3, 4). races and all ethnic groups. The clinical expression of the disease varies depending on

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Type Severity Characteristics

I Mild Normal height, lack of bone deformations or mild deformations, vertebral fractures, blue sclerae, normal walk II Perinatal mortality Multiple fractures III Severe Small height, scoliosis, triangular face, grey sclerae, difficult supported walk IV Moderate Small height, scoliosis, triangular face, white sclerae, difficult supported walk V Moderate Medium height, abnormal callus, ossification of the interosseous membrane of the forearm and lower limbs, radioulnar synostosis, white sclerae VI Moderate – severe Medium height, frequent fractures, while sclerae VII Moderate Small height, coxa vara, anomalies of the humerus and femur, white sclerae Table 1. Classification of the types of osteogenesis imperfect

CLINICAL CASE fracture; 4 years old, bilateral congenital A female patient, 11 years and 3 months proximal radioulnar synostosis – operated. old, is admitted in the pediatric ward for the Psychological evaluation at the age of 6 years: supplementation of investigations in view of mild mental retardation (IQ = 40), identifying the etiology of her osteomuscular polymorphic dyslalia. Menarche at the age of disorder. 10 years and 8 months with significant Family history: parents and siblings dysfunctions of the menstrual cycle. apparently healthy, without consanguinity The objective examination upon relations, mother 5 pregnancies, 3 births (2 admission revealed a good general status, abortions on request). Obstetrical history: the facial dimorphism, normally coloured second child coming from a non-monitored teguments, blue sclerae, pectus excavatum, pregnancy with physiological evolution, dextroscoliosis, angulation persistence in the natural birth at 39 weeks of pregnancy, with elbow joint making full extension impossible, BW=2900g, H=54cm, APGAR – 8, no fetal bilateral deformation of the 5th finger in distress during birth. bilateral flexion. There were no auscultation In the patient’s history, the following changes in the cardiovascular and respiratory events stood out: 8 months old, left 1/3 systems. Osteotendinous reflexes were present medium lower tibia spiroid fracture; 1 year bilaterally, and muscular strength was and 4 months old, left distal tibial metaphyseal moderately diminished.

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Laboratory tests: full blood count Imaging explorations WBC=7,100/mm3, Hb=12.9g/dl, Abdominal and thyroid ultrasonography – PLT=265,000/mm3, liver and kidneys within within normal limits; radiologically, long normal limits, euglycemic, phosphor-calcic bones: humerus, femur and leg bilaterally – metabolism and thyroid hormones within within normal limits; in the forearm – bilateral normal limits. proximal radioulnar synostosis, with the forearm bones roughly modelled, with diaphyseal cortical thickening and the lack of joint space in the left elbow (Fig. 1).

Fig 1. Bilateral forearm radioulnar synostosis

Spine X-ray: upper back dextroscoliosis, differentiation between the white and the grey lower back levoscoliosis, and lumbar matter. levoscoliosis with the apex in L2-L3. The genetic consultation revealed weight, Vertebral body D12 with increased height and cranial perimeter within normal anteroposterior diameter in comparison to the limits, with cranial-facial dimorphism, rest of the vertebral bodies. (antimongoloid palpebral fissures, blue sclerae, nasal voice, low position of the ears), The cranial CT scan did not highlight any pectus excavatum, bilateral radioulnar changes in the scanned bone structures, the synostosis operated, bilateral 5th finger brain matter showing densities within normal camptodactyly (Fig. 2), fingers with thinned limits, circumvolutions present and visible distal phalange, moderate psychomotor retardation, language impairment, irregular menstrual cycles.

Fig.2 5th finger camptodactyly

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The positive diagnosis of osteogenesis in moderate-severe cases of OI in children, imperfecta type 1 was supported by the with a decrease in the incidence of bone genetic consultation correlated with the fractures and deformations due to the increase anamnestic data and the performed imaging in bone density (6, 7). Surgical treatment is explorations. useful both for the correction of bone The differential diagnosis included fractures and deformations and for bone hypophosphatasia, juvenile idiopathic stabilization by means of rods implanted at osteoporosis, congenital syphilis. What is the level of the long bones. very important at this pediatric age is the In our case, despite repeated admissions differential diagnosis between osteogenesis in the pediatric surgery department for imperfecta and non-accidental traumas. multiple fractures, the child was diagnosed tardily, at the age of 11 years. DISCUSSIONS It was difficult to decide between the In OI type 1, the non-orthopedic causes diagnoses of OI type 1 and type 5, because of of morbidity are determined by the joint the unusual association of radioulnar mobility, which causes joint pain, deafness synostosis (frequently found in OI type 5) and and brain compression. the blue sclerae (characteristic to OI type 1). Severe thoracic and lumbar scoliosis is a (8, 9) problem difficult to treat and most of the In what follows, this case needs pediatric times, the respiratory function is severely and orthopaedic monitoring for the correction compromised, with high morbidity due to the of bone deformations, and psychological recurrence of respiratory infections (5). support. As there is no etiological treatment, attention is drawn to the prevention of CONCLUSIONS fractures, the surgical correction of bone The girl with a positive history of deformations, the increase in bone density, fractures, with bone deformations pain minimization and mobility and (dextroscoliosis, pectus excavatum, bilateral functional independence maximization. A radioulnar synostosis operated, bilateral 5th balanced diet (obesity prevention, finger camtodactyly), mental retardation, administration of calcium and vitamin D recorded in the pediatric ward, is diagnosed supplements) together with physical therapy with OI type 1 tardily, at the age of 11 years. considerably increase life quality. The therapy with bisphosphonates proved efficient

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