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Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome
Author(s) -
Perrotin Franck,
Haddad Georges,
Guichet Agnès,
Paillet Christian,
Moraine Claude,
Body Gilles
Publication year - 2000
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 - 10.1002/1097-0223(200006)20:6<501::aid-pd862>3.0.co;2-x
Subject(s) - medicine , prenatal diagnosis , prenatal ultrasound , sex organ , pregnancy , pediatrics , surgery , fetus , genetics , biology
The prenatal ultrasound identification of a cleft lip and palate, equinovarus feet with severe lower limb malposition and genital abnormalities led to the prenatal diagnosis of popliteal pterygium syndrome in a pregnant mother suspected to have a mild expression of this autosomal dominant condition. However, in sporadic cases with lack of a family history for this rare syndrome, prenatal diagnosis may be difficult to ascertain. Copyright © 2000 John Wiley & Sons, Ltd.