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]

• 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]

• 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]

• 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]

• Cryptorchidism

  […] nasal bridge Long philtrum Abnormality of limbs Dislocated radial head Hypoplastic distal humeri Limited elbow flexion Limited elbow flexion/extension Rhizomelic arm shortening Short 1st metacarpal Short humerus Abnormality of the genitourinary system Cryptorchidism [ncbi.nlm.nih.gov]

  Clinical characteristics included motor developmental delay, cryptorchidism, shortened long bones with mild tapering, distally flared metaphyses, and radioulnar diastasis. [fdna.health]

  Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007).Genetic Heterogeneity of OmodysplasiaIn an autosomal dominant form of omodysplasia (OMOD2; 164745), abnormalities [rarediseases.info.nih.gov]

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]