Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus

Clinical Genetics
K D MacDermotV Van Someren

Abstract

We describe a single male infant who developed severe hydrops fetalis between 19 and 28 weeks of gestation. After delivery at 32 weeks he was treated by hemofiltration, prolonged ventilation and intravenous feeding. He had hypertelorism, orbital hypoplasia without proptosis, brachydactyly, frontal and temporal bossing of the skull, central hypotonia, communicating hydrocephalus, and severe delay in psychomotor development. Signs of connective tissue disorder included: osteopenia, pathological fracture, yellow/grey discolored teeth, blue sclerae and easy bruising. Laboratory investigations failed to reveal the cause of fetal hydrops or collagen abnormality. His mother and one sib had learning difficulties. Although some of these findings may be due to perinatal factors, the connective tissue abnormalities suggest a genetic syndrome in the heterogeneous group of osteogenesis imperfecta. This case either represents the more severe end of the spectrum of Type IV osteogenesis imperfecta or the mild end of the spectrum of Cole-Carpenter syndrome.

References

Dec 1, 1984·American Journal of Obstetrics and Gynecology·W HolzgreveJ C Smith
Jan 1, 1983·The Journal of Bone and Joint Surgery. British Volume·C R PatersonR Miller

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Citations

Sep 5, 2002·American Journal of Medical Genetics·Alasdair G W Hunter
Jan 22, 2015·American Journal of Medical Genetics. Part a·Meena BalasubramanianNicholas J Bishop
Jun 8, 2000·American Journal of Medical Genetics·D J AmorA Bankier

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