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Omodysplasia

Presentation

Prenatal Presentation: Borochowitz et al., (1998) report a 20-week-old fetus detected prenatally with a recessive form of omodysplasia. Detailed histopathological studies of the bone and cartilage were provided. [fdna.health]

Musculoskeletal

  • Short Humerus

    1st metacarpal Short humerus Abnormality of the genitourinary system Cryptorchidism Hypospadias Micropenis Abnormality of the musculoskeletal system Frontal bossing IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it [ncbi.nlm.nih.gov]

  • Joint Deformity

    Joint deformations Pascal 002 Biological and medical sciences / 235 Tropical medicine Discipline Osteoarticular pathology Tropical medicine Origin Inist-CNRS Database PASCAL INIST identifier 2171538 Sauf mention contraire ci-dessus, le contenu de cette [pascal-francis.inist.fr]

  • Brachydactyly

    Generalized brachydactyly is a distinguishing feature of Robinow syndrome. Prenatal Presentation: Borochowitz et al., (1998) report a 20-week-old fetus detected prenatally with a recessive form of omodysplasia. [fdna.health]

Face, Head & Neck

  • Hypertelorism

    The patient also had distinct facial features including hypertelorism, bilateral cleft lip/palate, a short nose with a broad nasal bridge and microretrognathia. [fdna.health]

Treatment

Crit Care Med 33 (Suppl): 301–306 CrossRef Google Scholar Mikaszewska-Sokolewicz M, Mayzner-Zawadzka E (2005) Use of recombinant human activated protein C in treatment of severe sepsis in a pregnant patient with fully symptomatic ovarian hyperstimulation [link.springer.com]

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