This is a 3-month old male who comes to the 
emergency department at 6:30 am with a chief 
complaint of vomiting.  He has vomited 5 times since 
midnight.  He has been ill for three days with symptoms 
of fever (38 degrees C), poor appetite, coughing and 
nasal congestion.  His mother does not speak English, 
but a 12 year old relative has accompanied the family 
who translates well.  He is seen in triage and is brought 
into the emergency department as a high priority 
because he appears pale with moderate retractions and 
he is on home oxygen delivered via nasal canula.
     When asked about his past medical history, his 
mother indicates through the translator that he has 
weak bones and not enough oxygen.  The child's 
oxygen is turned up immediately before an oxygen 
saturation can be measured.
     VS T38.1, P180, R50, oxygen saturation 100% on 5 
liters of oxygen by nasal canula.  He is still pale, but 
responsive and moving about well.  He does not appear 
to be toxic or irritable.  He is in moderate respiratory 
distress.  His occiput is flattened.  His anterior 
fontanelle is soft and flat.  His TM's are normal.  Oral 
mucosa moist and clear.  There is modest nasal 
congestion.  His neck is supple.  Heart tachycardic 
without murmurs.  Lungs with good aeration and 
wheezy breath sounds.  There are moderate 
retractions.  Abdomen soft and non-tender.  No hernias 
are present.  Perfusion and turgor are good.
     An albuterol aerosol is administered with some 
improvement.  His retractions are mild now.  A chest 
radiograph is obtained.

View CXR-PA


View CXR-Lateral


     The chest radiographs show partial atelectasis of the 
right upper lobe.  There are multiple rib deformities 
(beading) with severe demineralization.  Some type of 
severe bone disease is evident on these chest  
radiographs.  His old charts finally arrive.  His neonatal 
course is significant for osteogenesis imperfecta which 
was diagnosed on prenatal uterine ultrasound.  He was 
delivered by C-section because of this at which time he 
was noted to have multiple skull, rib, vertebral and long 
bone fractures on skeletal survey at birth.  Wormian 
bones were noted on the skull.
     An RSV study was negative.  He was admitted to 
the hospital for inpatient management of his respiratory 
condition.

View his neonatal upper and lower extremity 
radiographs.

View UE's


View LE's


     Both his upper and lower extremities show multiple 
severe healing fractures (crumpling) with severe 
demineralization.  This is much more severe than that 
seen in Case 2 (of Volume 6).  This case represents a 
more severe form of osteogenesis imperfecta.

     There are four types of osteogenesis imperfecta 
(OI).  Type I is characterized by osteoporosis and 
excessive bone fragility, blue sclerae and hearing loss 
in adolescents and young adults.  This is the most 
common form of osteogenesis imperfecta with an 
incidence of about 1 in 30,000 live births.  Inheritance 
is autosomal dominant.  Minimal trauma may result in 
fractures.  About 10% of infants have fractures at birth.  
Bow legs, flat feet, kyphosis and scoliosis are 
commonly seen with OI.  A variant of OI type I is 
associated with dentinogenesis imperfecta (yellow or 
blue-gray translucent teeth which frequently erode or 
break prematurely).  Radiographs show generalized 
osteopenia and healing fractures.  Skin fibroblasts from 
patients show a reduction of type I procollagen 
synthesis.
     Type II osteogenesis imperfecta is a lethal form 
characterized by low birthweight, severe osteopenia, 
crumpled long bones and multiple rib deformities 
(beaded ribs).  Most cases are new mutations, but 
some are autosomal recessive occurring in 1 in 60,000 
live births.  50% are stillborn and the remainder 
eventually succumb to respiratory failure due to the 
skeletal defects of the chest.  The skull is soft and the 
limbs are short.  The skin is fragile as well.  Type I 
collagen (the main collagen of bone) synthesis is 
defective.
     Type III osteogenesis imperfecta manifests in the 
newborn or infant with multiple fractures due to severe 
bony fragility.  The sclerae may be blue at birth and 
become less blue with age.  Inheritance is autosomal 
recessive with clinical variability in severity.  Very few 
patients reach adulthood.  Children sustain multiple 
fractures and progressive kyphoscoliosis.  The skull is 
soft and deformed.  Most patients succumb to 
cardiorespiratory complications in infancy or childhood.
     Type IV osteogenesis imperfecta is characterized by 
osteoporosis leading to bone fragility of variable 
severity.  Inheritance is autosomal dominant.  The 
sclerae may be bluish at birth, but this becomes less 
prominent as the patient ages.  Because of variable 
severity, some patients sustain their first fractures in 
infancy, while others sustain their first fractures as 
adults.  There are variable degrees of bow legs, 
scoliosis and short stature.  Many patients show 
spontaneous improvement with age.  This form of OI 
may be occult.  Radiographs may demonstrate 
osteopenia, but this is not as severe as in other forms 
of OI.

References:
     Inherited Osteoporoses (Chapter 643).  In:  Nelson 
WE, Behrman RE, Kliegman RM, Arvin AM (eds).  
Nelson Textbook of Pediatrics, 15th edition, 
Philadelphia, PA, W.B. Saunders Company, 1996, pp. 
1978-1980.
     Poitras B, Rivard CH.  Pathologic Fractures (chapter 
56).  In:  Letts RM (ed).  Management of Pediatric 
Fractures,  New York, New York, Churchill Livingstone, 
1994, pp. 1027-1048.