Pediatric Radiology

, Volume 21, Issue 6, pp 421–427 | Cite as

Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings

  • M. Shohat
  • D. L. Rimoin
  • H. E. Gruber
  • R. S. Lachman


Clinical, radiographic and morphologic analysis of nineteen cases of perinatal (lethal) hypophosphatasia was performed. Three families each had two affected offspring. All of the patients had lethal short limb dwarfism with very soft calvaria. Other clinical findings included polyhydramnios, blue sclerae and spurs in the mid-portion of the forearms and lower legs. Considerable variability was found in the skeletal radiographs. In addition to the well known radiographic features such as generalized decrease in the size of ossified bones with some bones not ossified at all, other changes observed included: 1) marked variability in the amount of bone ossification; 2) variability between patients as to which bones were most severely affected; 3) unusually dense, round, flattened, butterfly shaped; and saggitally clefted vertebral bodies; 4) variability in femoral shape including “chromosome” like, “campomelic” like, and shortening with or without metaphyseal cupping or irregularities; 5) osteochondral projections (Bowdler spurs) of the midshaft of the fibula and ulna. Recognition of the marked clinical and radiographic variability in this autosomal recessive lethal skeletal dysplasia is important for accurate genetic counseling and prenatal diagnosis.


Genetic Counseling Vertebral Body Prenatal Diagnosis Radiographic Feature Morphologic Finding 
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Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • M. Shohat
    • 1
    • 2
  • D. L. Rimoin
    • 4
    • 5
  • H. E. Gruber
    • 4
    • 5
  • R. S. Lachman
    • 3
    • 4
    • 5
  1. 1.Medical Genetics and Pediatrics, Beilenson Medical CenterPetah Tikva
  2. 2.Sackler School of MedicineTel Aviv UniversityIsrael
  3. 3.Department of RadiologyHarbor-UCLA Medical CenterTorrance
  4. 4.The Ahmanson Pediatric Center, Medical Genetics-Birth Defects CenterCedars-Sinai Medical CenterLos Angeles
  5. 5.UCLA School of MedicineLos AngelesUSA

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