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McKusik‐Kaufman syndrome: prenatal diagnosis, genetics and follow up
Author(s) -
Gaucherand Pascal,
VavasseurMonot Chantal,
Ollag Elizabeth,
Boisson Catherine,
Labaune JeanMarc,
Basset Thierry,
Yared George
Publication year - 2002
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.448
Subject(s) - prenatal diagnosis , medical genetics , medicine , genetics , pregnancy , biology , fetus , gene
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. Copyright © 2002 John Wiley & Sons, Ltd.