Andersen P E, Kock K
Department of Diagnostic Radiology, Odense University Hospital, Denmark.
Skeletal Radiol. 1989;17(8):551-5. doi: 10.1007/BF02569399.
Micromelic bone dysplasia with cloverleaf skull is a well-described entity with short, straight tubular bones, hydrocephalus and cloverleaf deformity of the skull, narrow chest and platyspondyly. A further two unrelated patients are presented, in whom the shape of the head varied. Both cases also showed a narrow foramen magnum, hypoplastic cerebellum, atrial septal defect, hypoplastic adrenals, and ureteric malformations. The findings in the skeleton show similarities to other types of generalised bone dysplasias but are distinguishable from these. This well-defined bone dysplasia should probably be regarded as a separate entity. Visceral malformations may be associated.
伴有三叶形头盖骨的短肢性骨发育不良是一种已被充分描述的病症，其特征为管状骨短而直、脑积水、头盖骨三叶形畸形、胸廓狭窄和扁平椎体。本文报告另外两名无亲缘关系的患者，他们的头部形状各异。两例均显示枕骨大孔狭窄、小脑发育不全、房间隔缺损、肾上腺发育不全和输尿管畸形。骨骼方面的发现与其他类型的全身性骨发育不良有相似之处，但又可与之区分。这种明确的骨发育不良可能应被视为一个独立的病种。可能伴有内脏畸形。
