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3,614 Possible Causes for Short Stature

  • Malnutrition

    Some of the symptoms of severe malnutrition include short stature, low energy levels, and swollen legs and stomach (edema/ascites).[] stature.[] Short stature, obesity and arterial hypertension in a very low income population in North-eastern Brazil.[]

  • Growth Hormone Deficiency

    We present a case of 21-year-old woman with clinical and radiological characteristics of MAS triad; she presented with short stature which was attributed to both growth hormone[] […] deficit, peripheral sensory neuropathy, and skeletal dysplasia.[] More complex are issues related to hGH treatment to increase growth rates and heights of otherwise healthy short children with either idiopathic short stature or 'partial'[]

  • Wolcott-Rallison Syndrome

    Patient had delayed milestones and short stature. On follow up, child developed limb deformity and was diagnosed to have skeletal dysplasia.[] She was noted to have short stature at 8 years of age (height EIF2AK3 mutation, and a diagnosis of Wolcott Rallison syndrome was made.[] Skeletal dysplasia generally manifests within the 1st or 2nd year of life, and is associated with short stature (dwarfism with short trunk).[]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[] The patient showed a wide spectrum of symptoms including skeletal dysplasia and short stature with elevated glycosaminoglycans (GAGs) in urine.[] Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease.[]

  • Pseudopseudohypoparathyroidism

    stature.[] stature, short digits, and heterotopic calcifications.[] His physical signs included short stature, thick neck, short fourth metacarpals and metatarsals, and a spastic paraparesis.[]

  • Pseudohypoparathyroidism Type 1A

    This syndrome is associated with short stature, obesity, brachydactyly, and subcutaneous ossifications.[] In addition to brachydactyly and short stature, orthopedic complications can include spinal stenosis and carpal tunnel syndrome.[] We therefore hypothesized that patients with PHP type 1a may be GH deficient which could contribute to the obesity and short stature in this condition.[]

  • Rothmund Thomson Syndrome

    Targeted next-generation sequencing (NGS) using a custom panel consisting of 705 short-stature-related genes was performed for the probands.[] We present a 4-year-old girl with poikiloderma, radial aplasia, short stature, facial dysmorphism, and sparse hair.[] stature; and bone defects.[]

  • Pseudohypoparathyroidism

    The patient had short stature, brachydactyly, and subcutaneous heterotopic ossifications.[] We encountered a 10-year-old girl with typical Albright's hereditary osteodystrophy with round face, short stature, brachydactyly, and obesity.[] His physical signs included a short stature, a thick neck, short fourth metacarpals and metatarsals, a spastic paraparesis and sphincteric disturbance.[]

  • Laron Syndrome

    It is sometimes classified as either proportional short stature or dysproportional short stature such as cases of achodroplasia, hypochondroplasia and multiple epiphyseal[] Diagnosis of endocrine disease: limitations of the IGF1 generation test in children with short stature. Eur J Endocrinol. 2012;166(3):351-7.[] A paternal aunt and an uncle who died at an age of 4 years and 2 years respectively were reported to have short stature ( Figure 3 ).[]

  • MELAS Syndrome

    stature.[] Early development is usually normal except for short stature.[] stature, vomiting, headache, cortical blindness, deafness and dementia.[]

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