Parent P, Le Gonidec A, Le Guern H, Thomas M, Toudic L, Bellet M, Castel Y
Département de Pédiatrie et Génétique Médicale, C.H.U. Morvan, Brest.
J Genet Hum. 1988 Dec;36(5):475-84.
Chondrodysplasia punctata has very diverse clinical and radiological features. Its diagnosis may be suggested as early as in the neonatal period in front of an abnormal facial appearance, sometimes associated with bone and vertebrae defects. Radiological exams will assert it. Its subsequent course depends on the accompanying visceral abnormalities. Genetics advice is closely related to these. Ultrasonography is the only actual possibility of prenatal diagnosis. However our attitude must be guided by the clinical course (of the disease) of the initial case in the sibship.
点状软骨发育异常具有非常多样的临床和放射学特征。早在新生儿期，在出现异常面部外观（有时伴有骨骼和脊椎缺陷）时就可能提示其诊断。放射学检查将确诊。其后续病程取决于伴随的内脏异常情况。遗传学咨询与之密切相关。超声检查是产前诊断的唯一实际可行方法。然而，我们的态度必须以同胞关系中首例病例的临床病程为指导。
