GTR Home > Conditions/Phenotypes > Platyspondylic lethal skeletal dysplasia Torrance type

Summary

Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This disorder is also characterized by flattened spinal bones (platyspondyly) and an exaggerated curvature of the lower back (lordosis). Infants with this condition are born with a small chest with short ribs that can restrict the growth and expansion of the lungs. As a result of these serious health problems, some affected fetuses do not survive to term. Infants born with platyspondylic lethal skeletal dysplasia, Torrance type usually die at birth or shortly thereafter from respiratory failure. A few affected people with milder signs and symptoms have lived into adulthood. [from GHR]

Associated genes

Clinical features

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  • Short stature
  • Short thorax
  • Thin ribs
  • Short neck
  • Decreased cranial base ossification
  • Disc-like vertebral bodies
  • Severe limb shortening
  • Metaphyseal cupping
  • Flat acetabular roof
  • Hypoplastic ilia
  • Protuberant abdomen
  • Severe platyspondyly
  • Coarse facial features
  • Short long bones
  • Low-set, posteriorly rotated ears
  • Malar flattening
  • Hypoplastic ischia
  • Platyspondyly
  • Hypoplastic pubic bones
  • Cleft palate
  • Macrocephaly
  • Short ribs
  • Narrow chest
  • Sprengel anomaly
  • Abnormality of the metaphyses
  • Brachydactyly syndrome
  • Abnormality of the metacarpal bones
  • Polyhydramnios
  • Hydrops fetalis
  • Short toe
  • Abnormality of pelvic girdle bone morphology
  • Genu varum
  • Micromelia
  • Abnormality of the abdominal wall
  • Depressed nasal bridge
  • Lethal skeletal dysplasia
  • Abnormality of the epiphyses
  • Aplasia/Hypoplasia of the lungs
  • Neonatal short-limb short stature
  • Short distal phalanx of finger
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