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206 Possible Causes for Anterior Rounding of Vertebral Bodies, Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature

  • Pelviscapular Dysplasia

    rounding of vertebral bodies 0008488 Autosomal recessive inheritance 0000007 Bell-shaped thorax 0001591 Camptodactyly Permanent flexion of the finger or toe 0012385 Cleft[rarediseases.info.nih.gov] greater sacrosciatic notches Delayed ossification of pubic rami Holoprosencephaly Ectopic posterior pituitary Coloboma Hypoplasia of the maxilla Astigmatism Scarring Pigmentary[mendelian.co] […] columella Hypoplastic labia majora Broad neck Hypoplasia of the uterus Disproportionate short-limb short stature Pectus excavatum Abnormal aldolase level Cerebellar hypoplasia[mendelian.co]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    greater sacrosciatic notches 0003375 Narrow vertebral interpedicular distance 0008450 Short femoral neck Short neck of thighbone 0100864 Short ribs 0000773 Vertebral hypoplasia[rarediseases.info.nih.gov] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net] […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely[malacards.org]

    Missing: Anterior Rounding of Vertebral Bodies
  • Dyggve-Melchior-Clausen Syndrome

    greater sacrosciatic notches 0003375 Prominent sternum 0000884 Severe global developmental delay 0011344 Short femoral neck Short neck of thighbone 0100864 Short metacarpal[rarediseases.info.nih.gov] 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[ncbi.nlm.nih.gov] greater sacrosciatic notches Platyspondyly Prominent sternum Rhizomelia Scoliosis Severe global developmental delay Shield chest Short femoral neck Short metacarpal Short[dovemed.com]

    Missing: Anterior Rounding of Vertebral Bodies
  • Spondyloepimetaphyseal Dysplasia Type Strudwick 

    A, Lateral view of vertebral bodies showing rounded bodies with anterior beaking (arrow) and wide intervertebral disc spaces.[slideshare.net] greater sacrosciatic notches ; Pectus carinatum ; Pes planus ; Platyspondyly ; Protuberant abdomen ; Scoliosis ; Severe short stature ; Spondyloepimetaphyseal dysplasia Associated[mousephenotype.org] greater sacrosciatic notches 0003375 Pectus carinatum Pigeon chest 0000768 Pes planus Flat feet Flat foot [ more ] 0001763 Protuberant abdomen Belly sticks out Extended belly[rarediseases.info.nih.gov]

    Missing: Severely Disproportionate Short Stature
  • Platyspondyly

    […] central vertebral body beaking round vertebral bodies coxa valga goblet shaped flared iliac wings, increased acetabular angles and constricted iliac bone base P.S: Ovoid[jssmcradiology.com] greater sacrosciatic notches Corneal opacity Thoracolumbar kyphosis Postnatal growth retardation Respiratory tract infection Kyphoscoliosis Severe short stature Arrhythmia[mendelian.co] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    vertebral bodies; and (A4), severe platyspondyly and anterior tonguing of the vertebral bodies.[rrnursingschool.biz] greater sacrosciatic notches 0003375 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Recurrent pneumonia 0006532 Retinal degeneration Retina degeneration 0000546[rarediseases.info.nih.gov] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[rarediseases.info.nih.gov]

  • Pseudoachondroplasia

    Spine X-ray shows platyspondyly, anterior tongue like projection, superior and inferior rounding of vertebral bodies and normal interpedicular distance.[comprped.com] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] Definition A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower[uniprot.org]

    Missing: Narrow Greater Sacrosciatic Notch
  • Mucopolysaccharidosis

    OBJECTIVE: The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD: Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls.[…][ncbi.nlm.nih.gov]

    Missing: Anterior Rounding of Vertebral Bodies Severely Disproportionate Short Stature
  • Anauxetic Dysplasia

    Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities.[ncbi.nlm.nih.gov] Disproportionate short-limb short stature is the hallmark finding and is usually recognized in the newborn and occasionally prenatally.[ncbi.nlm.nih.gov]

    Missing: Anterior Rounding of Vertebral Bodies Narrow Greater Sacrosciatic Notch
  • SAMS Syndrome

    A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was[…][ncbi.nlm.nih.gov]

    Missing: Anterior Rounding of Vertebral Bodies Severely Disproportionate Short Stature