Osteocraniostenosis: a further case report documenting the antenatal findings.
Osteocraniostenosis is a rare, lethal skeletal dysplasia with a distinctive phenotype and diagnostic X-ray findings. We present a case of an infant who was antenatally detected to have dysmorphic facial features as early as 22 weeks of gestation. Subsequent postnatal investigations confirmed the diagnosis of osteocraniostenosis. These antenatal findings have not been documented previously. We discuss both the antenatal and postnatal findings of this condition.
Smith
Audrey
A
Departments of Clinical Genetics Fetal Medicine, St Mary's Hospital, Manchester, UK.
Mehta
Sarju
S
Bullen
Philip
P
Clayton-Smith
Jill
J
D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal