A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density.
A fetus diagnosed by sonography at 20 weeks' gestation had multiple skeletal abnormalities. The main features were absent ossification of the skull and cervical and upper thoracic vertebral bodies; short, angulated femora, tibiae, radii and ulnae but normal humeri; platyspondyly; trident-shaped acetabular roofs; sclerotic bands on the iliac wings and scapulae; clavicular hooks; and overall, mixed bone density. We suggest that this is a new chondrodysplasia which, since the parents are first cousins, could follow autosomal recessive inheritance.
Seller
M J
MJ
South East Thames Regional Genetics Centre, Guy's Hospital, London, UK.
Berry
A C
AC
Maxwell
D
D
McLennan
A
A
Hall
C M
CM
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology*; D000028:Abortion, Induced; D000328:Adult; D015519:Bone Density; D003241:Consanguinity; D003922:Diabetes Mellitus, Type 1; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology*; D011247:Pregnancy; D011254:Pregnancy in Diabetics; D011859:Radiography