Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome.

作者信息

Perrotin F, Haddad G, Guichet A, Paillet C, Moraine C, Body G

机构信息

Département Gynécologie-Obstétrique, Médecine Foetale et Reproduction Humaine, Hôpital Bretonneau, Centre Hospitalier Universitaire, F-37044, Tours Cedex, France.

出版信息

Prenat Diagn. 2000 Jun;20(6):501-4. doi: 10.1002/1097-0223(200006)20:6<501::aid-pd862>3.0.co;2-x.

DOI:10.1002/1097-0223(200006)20:6<501::aid-pd862>3.0.co;2-x

PMID:10861717

Abstract

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.

摘要