[Cloverleaf skull associated with generalized bone defects close to asphyxiating thoracic dysplasia].
The association of cloverleaf skull and micromelia is reputed. X-ray images of the skull are typical; those of the skeleton are compatible with the thoracic dysplasia reported by Jeune, or with chondro-ectodermic dysplasia: short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, absent ossification of the terminal phalanges. The mode of inheritance of the syndrome is probably autosomal recessive. The association reported is undescribed until now, although cloverleaf skull can be associated with other bone deformities. Most often the latter are thanatophoric dwarfism or a syndrome including ankylosis of the elbow joints, occasionally of the knees, club-foot, syndactyly and absent phalanges.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D001238:Asphyxia Neonatorum / Q000150:complications*; D001847:Bone Diseases / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications; D010375:Pedigree; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013909:Thorax / Q000002:abnormalities*
Crâne en trèfle associé à une atteinte généralisée du squelette proche de la dysplasie thoracique asphyxiante.