Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus.
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.
MacDermot
K D
KD
Department of Clinical Genetics, Royal Free Hospital School of Medicine, London, UK.
Buckley
B
B
Van Someren
V
V
D001851:Bone Diseases, Metabolic / Q000150:complications*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D006849:Hydrocephalus / Q000150:complications* / Q000235:genetics; D015160:Hydrops Fetalis / Q000150:complications* / Q000000981:diagnostic imaging; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010013:Osteogenesis Imperfecta / Q000209:etiology; D011247:Pregnancy; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*; D014463:Ultrasonography