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421 Possible Causes for Relative Short Stature

  • Cardiac Arrhythmia

    stature) and OSA.[] Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene.[] […] revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short[]

  • Growth Failure

    Additional Testing in All Girls Referred for GF with a HSDS TS is a well-known and relatively frequent cause of short stature in girls (online suppl.[] […] compounds as growth stimulants in children with short stature.[] In a child with short stature secondary to endocrine pathology, the child's weight will continue to progress normally or even increase relative to his or her height.[]

  • Endocrine Dysfunction

    The commonly observed endocrine manifestations in CLD are short stature, hepatic osteodystrophy, delayed puberty, hypogonadism, relative adrenal insufficiency and Sick Euthyroid[]

  • Joint Subluxation

    Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes[]

  • Acute Angle Closure Glaucoma

    The physical examination showed brachydactyly and relatively short stature.[]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral[] stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with[] Spondylo-megaepiphyseal-metaphyseal dysplasia ( SMMD ; MIM 613330) is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a[]

  • Epilepsy

    […] microcephaly, mild facial dysmorphisms microcephaly, short stature, mild facial dysmorphisms microcephaly, congenital hypothyroidism, bicuspid aortic valve, hypotonia microcephaly[] […] severe speech impairment mild ID mild ID mild to moderate ID, speech impairment severe ID mild ID moderate to severe ID unspecified delay Other clinical findings ataxia, relative[]

  • Stiff Skin Syndrome

    short stature.[] […] associated with scoliosis, restrictive pulmonary changes (as observed in the proband), focal lipodystrophy, hypertrichosis, muscle weakness, growth retardation, and /or relative[]

  • Medullary Thyroid Carcinoma

    A 31-year-old woman presenting a short stature and a palpable nodule in the front of her neck that had gradually increased in size during the last 2 years was referred to[] Medullary thyroid carcinoma (MTC) is also a relatively rare type of primary thyroid carcinoma.[]

  • Juvenile Rheumatoid Arthritis

    stature (vBMD), infliximab exposure (vBMD), and JIA duration (section modulus).[] The section modulus was significantly reduced relative to mCSA in patients with JIA after adjustment for age and limb length.[] […] musculoskeletal deficits included active arthritis in the previous 6 months (mCSA), temporomandibular joint disease (mCSA and section modulus), functional disability (mCSA and vBMD), short[]

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