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14 Possible Causes for Coxa Vara, Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    vara 0002812 Delayed epiphyseal ossification 0002663 Disproportionate short stature 0003498 Fibular overgrowth Overgrowth of calf bone 0003099 Flared metaphysis Flared wide[] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[] […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely[]

  • Dyggve-Melchior-Clausen Syndrome

    Carpal bone hypoplasia Small carpal bones Small carpals [ more ] 0001498 Cone-shaped epiphyses of the phalanges of the hand Cone-shaped end part of finger bones 0010230 Coxa[] Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading[] vara Deformed sella turcica Disproportionate short-trunk short stature Distal ulnar hypoplasia Enlargement of the costochondral junction Flat acetabular roof Flat glenoid[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Symptoms via clinical synopsis from OMIM: 57 Skin Nails Hair Hair: hypotrichosis Skeletal Pelvis: coxa vara flared iliac wings short femoral neck limited hip abduction Head[] greater sacrosciatic notches Microdontia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity Azoospermia Opacification of the corneal stroma Lymphopenia Intellectual[] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    This is a dominant heritable condition associated with short stature and developmental coxa vara.[] greater sacrosciatic notches 0003375 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Recurrent pneumonia 0006532 Retinal degeneration Retina degeneration 0000546[] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[]

  • Platyspondyly

    vara, genu varum and pear-shaped vertebrae in childhood.[] greater sacrosciatic notches Corneal opacity Thoracolumbar kyphosis Postnatal growth retardation Respiratory tract infection Kyphoscoliosis Severe short stature Arrhythmia[] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[]

  • Distal Symphalangism

    There is a unique genetic condition described in Saudi Arabian families, the camptodactylyarthropathy-coxa vara-pericarditis (CACP) syndrome.[] greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly Large central[] […] valga Coxa vara Dislocated hip Cone shaped epiphyses Fibulae a-/hypoplastic/under-/unossified Cone-shaped epiphyses of proximal phalanges Cone-shaped epiphyses of middle[]

  • Metaphyseal Chondrodysplasia Type Kaitila

    Radiographs of MCDS #51 show progressive coxa vara with metaphyseal irregularity ((a) 8.5 years, (b) 11 years).[] greater sacrosciatic notches Hepatic cysts Microtia Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Short palm Short metacarpal Thick vermilion[] At 28 yr she had severe, disproportionately short stature with short limbs and mild obesity (Fig. 2).[]

  • Pelviscapular Dysplasia

    vara pericarditis syndrome Pericarditis-arthropathy-camptodactyly syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome Perifoveal telangiectasis - See[] greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[] […] columella Hypoplastic labia majora Broad neck Hypoplasia of the uterus Disproportionate short-limb short stature Pectus excavatum Abnormal aldolase level Cerebellar hypoplasia[]

  • Spondyloepiphyseal Dysplasia Type Kimberley

    vara, genu varum and pear-shaped vertebrae in childhood.[] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[] Many children with SEDc are also diagnosed with a variety of orthopaedic conditions including: scoliosis, coxa vara, foot anomalies and joint problems.[]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    Vara 3.8 Coxa Valga Chapter 4 Spine and Ribs Louanne Hudgins and Neda Zadeh Introduction 4.1 Occipitalization of the Atlas 4.2 Aplasia/Hypoplasia of the Odontoid Process[] greater sacrosciatic notches Optic nerve coloboma Thoracic scoliosis Hand polydactyly Abnormality of the hand Iris hypopigmentation High hypermetropia Bowing of the legs[] Vara ; 3.8 Coxa Valga ; Chapter 4 Spine and Ribs ; Louanne Hudgins and Neda Zadeh ; Introduction ; 4.1 Occipitalization of the Atlas ; 4.2 Aplasia/Hypoplasia of the Odontoid[]

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