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337 Possible Causes for Proportionate Short Stature

  • Hallermann-Streiff Syndrome

    short stature, and dental anomalies.[] short stature.[] Abstract The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and proportionate short stature[]

  • Kenny-Caffey Syndrome Type 1

    OMIM : 57 Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of[] short stature ; Recurrent bacterial infections ; Seizures ; Short foot ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ; Thin ribs Associated Genes[] Delayed closure of the anterior fontanelle ; Delayed skeletal maturation ; Hypertelorism ; Hypocalcemia ; Hypomagnesemia ; Intrauterine growth retardation ; Long clavicles ; Proportionate[]

  • Seckel Syndrome

    A homozygous nonsense mutation was identified in CEP63 in a consanguineous family of Pakistani descent with three members with primary microcephaly and proportionate short[] Characteristics of Seckel syndrome include severe proportionally short stature with severe microcephaly (mean postnatal growth retardation is -7SD with a range from -5 to[] Hennekam, R.; Allanson, J.; and Krantz, I. (2011) "Proportionate short stature syndromes." Gorlin's Syndromes of the Head and Neck.[]

  • Marchesani-Weill Syndrome

    ., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.[]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    short stature, and pronounced microcephaly.[] It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.[] […] dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate[]

  • Familial Short Stature

    Proportionate short stature (PSS) is when the person is small, but all the parts are in the usual proportions.[] They are proportionately short statured.[] On the other hand, most genetic skeletal dysplasias are known for short stature that may be proportionate or disproportionate.[]

  • 3M Syndrome Type 1

    Affected individuals typically have proportionately short stature, normal head circumference, typical facial features and limb length asymmetry that may result from hemihypotrophy[] Affected individuals typically have proportionately short stature, normal head circumference, typical facial features, and limb-length asymmetry that may result from hemihypotrophy[]

  • Laron Syndrome with Immunodeficiency

    The child with proportionate short stature should be screened for organic, systemic and endocrine disorders.[] GHI is characterized by severe but proportionate short stature as a result of growth failure that begins at birth.[] short stature External genital hypoplasia Keratitis Short long bone Lymphopenia Chronic diarrhea Abnormal lung morphology Wide mouth Thick eyebrow Pneumonia Adducted thumb[]

  • Growth Failure

    Because of persisting, proportionate short stature at age 3.6 years, serum IGF-I was measured, ranging from 8–17 ng/mL (reference range, 40–100 ng/mL).[] The baby is born smaller in weight and length than normal, although proportionate to his/her short stature.[] Family history was negative for short stature, endocrine or autoimmune conditions.[]

  • SHOX-Related Short Stature

    Proportionate short stature People with proportionate short stature (PSS) grow very slowly and have a general lack of growth throughout the body.[] There are 2 main types of restricted growth: proportionate short stature (PSS) – a general lack of growth in the body, arms and legs disproportionate short stature (DSS) –[] […] imperfecta (although they may have proportionate short stature if bone fragility leads to generalized fractures), and spinal irradiation.[]

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