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176 Possible Causes for Skeletal Dysplasia, Sloping Shoulders

  • Cleidocranial Dysplasia

    Cleidocranial dysostosis (CCD) is a rare skeletal dysplasia with predominantly membranous bone involvement. It carries an autosomal dominant inheritance 4.[] shoulders that can be apposed at the midline, short stature, mid-face hypoplasia, multiple supernumerary teeth, and skeletal anomalies.[] Neurological examinations revealed sloping shoulders, weakness, and atrophy in the proximal areas of the arms, shoulder girdle muscles, and legs.[]

  • Skeletal Dysplasia

    DEVELOPMENT AND ENDOCHONDRAL OSSIFICATION CELLULAR PROCESSES THAT CONTRIBUTE TO NORMAL SKELETAL GROWTH AND SKELETAL DYSPLASIA THE SKELETAL DYSPLASIAS THE GENETICS OF SKELETAL[] As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases can be made to meet in the middle of the[] Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature.[]

  • Williams Syndrome

    They can have a short stature, sloping shoulders, long neck and limited movement in their joints. What medical issues are associated with Williams Syndrome?[] shoulders, a long neck, and are short of stature.[] People with Williams syndromeare also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine.[]

  • Three M Syndrome

    Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features.[] Other skeletal abnormalities that often occur in this disorder include a short, broad neck and chest; prominent shoulder blades; and shoulders that slope less than usual ([] Antenatally, he was suspected to have skeletal dysplasia.[]

  • Craniofacial Dysplasia-Osteopenia Syndrome

    Abstract We report two sporadic cases of a hitherto undescribed skeletal dysplasia with short stature and characteristic facies.[] shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Frontal bossing 0002007 High, narrow palate Narrow, high-arched roof of mouth Narrow[] shoulders pterygium colli Skeletal Skull: craniosynostosis (in some patients) Head And Neck Eyes: laterally sparse eyebrows severe hypertelorism myopia, progressive severe[]

  • Platyspondyly

    TY - JOUR T1 - A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.[] shoulders Neurodevelopmental delay Hyperhidrosis Pes cavus Large earlobe Proptosis Nephroblastoma Hypothyroidism Inverted nipples Enlarged kidney Broad forehead Talipes Stiff[] We considered that the patients could be affected by a new distinct autosomal recessive type brachyolmia or a new skeletal dysplasia.[]

  • Dyggve-Melchior-Clausen Syndrome

    We report a case of Dyggve-Melchior-Clausen syndrome, a skeletal dysplasia with short trunk dwarfism and mental retardation.[] Abnormality of the wrist Hyperlordosis Hypoplasia of the odontoid process Joint stiffness Kyphosis Microcephaly Neurological speech impairment Postnatal growth retardation Sloping[] BACKGROUND: Dyggve Melchior Clausen syndrome (DMC) is a severe autosomal recessive skeletal dysplasia associated with mental retardation.[]

  • Coxa Valga

    The differential diagnosis includes neuromuscular disorders (i.e. cerebral palsy, spinal dysraphism, poliomyelitis), skeletal dysplasias, and juvenile idiopathic arthritis[] Skeletal defects include long neck, narrow thorax, down-sloping shoulders, and prominent elbow joints (Wiedemann et al. 1993).[]

  • Schwartz-Lelek Syndrome

    dysplasia terminology and diag nosis, and has proved of immense value to its users.[] shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit.[] The authors also have had available data from the University of Cape Town Skeletal Dysplasia Registry.[]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    In addition to these features, individuals with MOPDII have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease[] […] flexion contracture ; Single transverse palmar crease ; Sloping forehead ; Small anterior fontanelle ; Sparse and thin eyebrow ; Sparse eyelashes ; Sparse scalp hair ; Stillbirth[] dysplasia, short stature, and neurologic abnormalities.[]

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