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623 Possible Causes for Disharmonic Maturation of Phalanges and Carpal Bones, Echogenic Kidneys with Thick-Walled Pelvises, Mostly Sporadic

  • Costello Syndrome

    Costello syndrome (CS) is caused by heterozygous germline HRAS mutations. Most patients share the HRAS mutation c.34G A (p.Gly12Ser) associated with the typical, relatively homogeneous phenotype. Rarer mutations occurred in individuals with an attenuated phenotype. Although many disease-associated HRAS alterations[…][ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Sotos Syndrome

    Sotos syndrome is one of the most common overgrowth diseases and it predisposes patients to cancer, generally in childhood. The prevalence of this genetic disorder is 1:10,000 1:50,000, and it is characterized by wide allelic heterogeneity, with more than 100 different known mutations in the nuclear receptor-binding[…][ncbi.nlm.nih.gov]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Russell-Silver Syndrome

    Cases of Russell-Silver syndrome are mostly sporadic, that is, the disorder may appear in people with no known history of the disease in the family.[symptoma.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Echogenic Kidneys with Thick-Walled Pelvises
  • Facial Hemiatrophy

    Abstract We describe a boy with mild hemifacial atrophy (Parry‐Romberg syndrome); he had localized scleroderma on a leg and his trunk, and antinuclear antibodies in his serum. These findings support suggestions that this disorder could be a variant of localized scleroderma rather than a developmental anomaly or[…][doi.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Echogenic Kidneys with Thick-Walled Pelvises
  • Poland Syndrome

    Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body.[en.wikipedia.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Echogenic Kidneys with Thick-Walled Pelvises
  • Laryngo-Tracheo-Esophageal Cleft

    LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported.[ncbi.nlm.nih.gov] Genetic counseling LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported.[orpha.net] Cases of LC appear to be mostly sporadic. However, reports exist of families with multiple children having a cleft.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Echogenic Kidneys with Thick-Walled Pelvises
  • Panic Attacks

    My intake was sporadic, and mostly restricted to weekends. I had never been much of a partier before this period in my early thirties.[abcnews.go.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Echogenic Kidneys with Thick-Walled Pelvises
  • Blue Rubber Bleb Nevus Syndrome

    The disorder affects both sexes equally and the occurrence is mostly sporadic except for a few reports of cases with autosomal dominant inheritance pattern.[ncbi.nlm.nih.gov] BRBNS cases are mostly sporadic; familial cases have been described with linkage to chromosome 9p.[neurology.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Echogenic Kidneys with Thick-Walled Pelvises
  • Thrombocytopenia

    […] only sporadic relapses after a 10-year follow up.[haematologica.org] We also confirm that approximately one-third of the initially responding patients may finally relapse, and that relapse occurs early, mostly within the first four years, with[haematologica.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Echogenic Kidneys with Thick-Walled Pelvises
  • Polyneuropathy

    Cramping pain occurred sporadically in my arms and legs, especially after any effort.[bruno-groening.org] I suffered from increasing disorientation, mostly after getting up or in the dark, and sweat attacks. Sometimes everything went black before my eyes. Lire la suite...[bruno-groening.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Echogenic Kidneys with Thick-Walled Pelvises

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