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1,266 Possible Causes for Erythrocyte Gs Activity Reduced, Round Face

  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[] She was 153 cm tall and weighed 109 kg with a round face.[] It is characterized by a multitude of physical features, including a short stature, round face, obesity, brachydactyly and osteoma cutis.[]

  • Pseudohypoparathyroidism Type 1A

    In children aged 2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%).[] He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia.[] This defect also causes short stature, a round face, and short hand bones, which is referred to as Albright's hereditary osteodystrophy.[]

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[] The condition causes short stature, round face, obesity, developmental delay, and short hand bones.[]

    Missing: Erythrocyte Gs Activity Reduced
  • Aarskog Syndrome

    face with widow's peak and, in one of them, ptosis of the eyelids.[] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[] Rounded face. Impaired development of the mid section of the face. Wide set of eyes. Hairline resembling the peak of a widow. Crease below the lower lip. Droopy eyelids.[]

    Missing: Erythrocyte Gs Activity Reduced
  • Mucopolysaccharidosis

    MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in catabolism of dermatan sulfate resulting from disease-causing variations in the ARSB gene. Human Gene Mutation Database (HGMD) search revealed 200 different[…][]

    Missing: Erythrocyte Gs Activity Reduced
  • Barth Syndrome

    face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[] Common signs and symptoms include; distinctive facial features with a round face and full cheeks, large ears, deep-set eyes, big chin, heart muscle weakness which presents[] Skeletal myopathy or hypotonia Prepubertal growth delay Typical dysmorphic findings in infants and toddlers including round face, full cheeks, prominent pointed chin, large[]

    Missing: Erythrocyte Gs Activity Reduced
  • Mucopolysaccharidosis 2

    Two patients with a complete deletion of the iduronate-2-sulphatase (IDS) gene are described. In both patients, the resulting phenotype was that of very severe Hunter syndrome (mucopolysaccharidosis II). In addition, both had features not commonly seen in this disorder, e.g. early onset of seizures in one patient[…][]

    Missing: Erythrocyte Gs Activity Reduced
  • Congenital Muscular Dystrophy

    OBJECTIVE: The aim was to update the genetic and clinical advances of congenital muscular dystrophy (CMD), based on a systematic review of the literature from 1991 to 2017. DATA SOURCES: Articles in English published in PubMed from 1991 to 2017 English were searched. The terms used in the literature searches were[…][]

    Missing: Erythrocyte Gs Activity Reduced
  • Neuhauser Syndrome

    The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[] Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and[]

    Missing: Erythrocyte Gs Activity Reduced
  • Cushing Syndrome due to Macronodular Adrenal Hyperplasia

    Typically, patients have the following clinical features 6 : rounded face, sometimes described as 'moon-shaped' progressive centripetal obesity and weight gain prominent supraclavicular[] Obesity extends to include fat deposits around the face causing a “moon-shaped” or rounded appearance.[] Most people with Cushing syndrome have: Round, red, full face ( moon face ) Slow growth rate in children Weight gain with fat accumulation on the trunk, but fat loss from[]

    Missing: Erythrocyte Gs Activity Reduced

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