Gaucherand Pascal, Vavasseur-Monot Chantal, Ollagnon Elizabeth, Boisson Catherine, Labaune Jean-Marc, Basset Thierry, Yared George
Obstetrical Unit, Croix-Rousse Hospital, 93 Grande rue de la Croix-Rousse, 69004 Lyon, France.
Prenat Diagn. 2002 Nov;22(11):1048-50. doi: 10.1002/pd.448.
McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. We report such a case diagnosed just before birth with a favourable outcome. From this case we describe and discuss all the prenatal sonographic signs which are not always present. On the genetic side, the gene has recently been localized together with the mutation responsible for MKKS. The phenotypic relationship between MKKS which has a good prognosis and Bardet-Biedl syndrome (BBS) with a worse prognosis requires great caution before diagnosing MKKS and a long follow-up is necessary to recognize obesity, growth retardation and pigmentary retinitis.
麦库西克 - 考夫曼综合征（MKKS）是一种罕见的常染色体隐性遗传病，女性患者典型表现为多指（趾）畸形和阴道积水，有时还伴有心脏异常。我们报告了一例在出生前就被诊断出的病例，其预后良好。从该病例中，我们描述并讨论了并非总是出现的所有产前超声征象。在遗传学方面，该基因最近已与导致MKKS的突变一起定位。在诊断MKKS之前，具有良好预后的MKKS与预后较差的巴德 - 比德尔综合征（BBS）之间的表型关系需要格外谨慎，并且需要长期随访以识别肥胖、生长发育迟缓及色素性视网膜炎。
