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281 Possible Causes for Diffuse Osseous Demineralization, Microphallus

  • Warburg Micro Syndrome 3

    He had microphallus, scrotal hypoplasia and atrophic testes. He had axial hypotonia and the deep tendon reflexes were brisk. There was no organomegaly.[] Radiological examination of the skeleton showed a left curved scoliosis, convex vertebral bodies, diffuse osseous demineralization, thin diaphyses of the long bones, bilateral[]

  • Hypogonadotropic Hypogonadism

    The twins manifested with microphallus, cryptorchidism, and deficient postnatal activation of the hypothalamic-pituitary-gonadal axis, findings consistent with IHH.[] As a result, he had a full-skin exam and was found to have a microphallus, undescended testes, and minimal pubic hair distribution. He had a normal sense of smell.[] Beyond single case reports, data are not available for 48,XXXY; however, microphallus is described in case reports, ( 10 ) and it is predicted that mean phallus length would[]

    Missing: Diffuse Osseous Demineralization
  • CHARGE Syndrome

    Abnormalities of genitalia in males include an underdeveloped penis (micropenis or microphallus) and testicles that fail to descend to the scrotum (cryptorchidism).[] Microphallus, penile agenesis, hypospadias, chordee, cryptorchidism, bifid scrotum, atresia of uterus, cervix and vagina, hypoplastic labia and clitoris are reported genital[]

    Missing: Diffuse Osseous Demineralization
  • Moebius Syndrome

    Möbius syndrome is an extremely rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions. Limb and chest wall[…][]

    Missing: Diffuse Osseous Demineralization
  • Laurence Moon Syndrome

    Laurence Moon syndrome is a rare genetic disease of a multisystemic nature that features hypopituitarism, obesity, mental retardation, ataxia, and retinal dystrophy. It is categorized under the wider spectrum of PNPLA6-related disorders and inherited via the autosomal recessive inheritance pattern. Definite[…][]

    Missing: Diffuse Osseous Demineralization
  • Pitt-Hopkins Syndrome

    Pitt-Hopkins syndrome is a rare genetic disease that stems from mutations in the transcription factor 4 (TCF4) gene located on chromosome 18. The clinical presentation encompasses diverse features, some of the most important being facial changes, mental and growth retardation, epilepsy, respiratory difficulties,[…][]

    Missing: Diffuse Osseous Demineralization
  • Fraser Syndrome

    Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder. Fraser syndrome is named for the geneticist George R. Fraser, who first described the syndrome in 1962. It is characterized by developmental[…][]

    Missing: Diffuse Osseous Demineralization
  • Ulnar Mammary Syndrome

    Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty and genital anomalies. We report the mapping of a gene causing UMS to chromosome 12q23-24.1. Linkage[…][]

    Missing: Diffuse Osseous Demineralization
  • Prader-Willi Syndrome

    Prader–Willi syndrome is a rare, genetic disorder characterized especially by failure to thrive, short stature, mental retardation, hypotonia, functionally deficient gonads, and obesity. The presentation of Prader-Willi syndrome depends upon the age of the patient. In fetal life: Reduced fetal movements and abnormal[…][]

    Missing: Diffuse Osseous Demineralization
  • Woodhouse Sakati Syndrome

    BACKGROUND Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic condition that was first described in 1983. Since its original description, approximately 50 cases have been reported with various clinical signs and symptoms. Characteristics include progressive neurologic deterioration with[…][]

    Missing: Diffuse Osseous Demineralization

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