[Brachyolmia at autosomal recessive transmission]. / Brachyolmie à transmission autosomique récessive.

BACKGROUND: Brachyolmia is a form of spondylodysplasia; sufferers have a short stature limited to the trunk that is recessively inherited. There may be other minor abnormalities in some cases. CASE REPORTs. Four brothers, born to consanguineous normal parents, developed short stature and scoliosis that were only identified after the age of 5 years (from 8 to 14 years). The three oldest patients had facial anomalies with flattened mid-face and enlarged lips. X-rays showed scoliosis, universal platyspondyly, irregular iliac crests and short, enlarged femoral necks. CONCLUSION: Evidence of abnormalities in other areas than the spine confirms the heterogeneity for the disease.

[Osteogenesis imperfecta with hypertrophic callus. Apropos of 2 cases with early onset]. / Ostéogenèse imparfaite avec cal hypertrophique. A propos de deux observations à début précoce.

BACKGROUND: The callus that forms at the site of recent fractures in patients with osteogenesis imperfecta is usually normal, but hyperplastic callus may develop. CASE REPORTS: Case 1. A hyperplastic callus with local inflammation developed at the site of a fracture of the left thigh of a boy, aged 11 months suffering from osteogenesis imperfecta. This disease was characterized by the progressive development of broad limbs, bone islands on skull x-rays and blue sclerae. He had also had fractures at the ages of 4 and 7 months. Follow-up showed that this boy, now aged 15 years, had several fractures with the development of similar hyperplastic calluses. These limitated joint motility, causing him to remain confined to his bed. Case 2. This girl of consanguineous parents had a fracture of the femora at the age of 1 month; she had blue sclerae and developed a hyperplastic callus. The roentgenographic studies showed generalized osteopenia and deformities indicating osteogenesis imperfecta. CONCLUSION: Hyperplastic callus may develop in osteogenesis imperfecta. Its diagnosis may be difficult with neoplasms of bone, such as osteosarcoma, and its treatment is difficult.

[Interstitial nephropathy, tapeto-retinal degeneration and cataract. Apropos of a new case]. / Néphropathie interstitielle, dégénérescence tapéto-rétinienne et cataracte. A propos d'une nouvelle observation.

A case of chronic interstitial renal disease is reported. Onset was manifested at the age of three by polyuria and polydipsia. The child was hospitalized at the age of eleven for renal failure and tapetoretinal degenerescence with cataract were found. The simultaneous occurrence of interstitial renal disease and tapetoretinal degenerescence is well-known. However, this case where cataract was also present illustrates the fact that tapetoretinal degenerescence is not the only ocular abnormality found in this interstitial nephropathies.