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]

• 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]

• Shortened Upper Limbs

  They reported a case with bilateral shortened upper limbs, shortened first metacarpal bones and shortened middle phalanges of the 5th digits. [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]

• Broad Nasal Bridge

  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]

• Round Face

  Dysmorphic features were frontal bossing, round face, long philtrum and flat nasal bridge. Additional features in the mother were bilateral cleft lip and cleft palate, hypoplastic labia and clitoris, and didelphic uterus. [fdna.health]

• Cryptorchidism

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

• Shortened Long Bone

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