Apert syndrome is a rare craniosynostosis syndrome with significant bilateral syndactyly of the hands and feet. Usually it is detected by ultrasonography during the third trimester unless there is a family history. We present an interesting sporadic case with features consistent with Apert syndrome
Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome
✍ Scribed by Franck Perrotin; Georges Haddad; Agnès Guichet; Christian Paillet; Claude Moraine; Gilles Body
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 221 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
The prenatal ultrasound identi®cation 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 dif®cult to ascertain.
📜 SIMILAR VOLUMES
Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report docum
We describe two sibs affected with Jeune syndrome. The first was diagnosed after birth and the second was diagnosed prenatally using ultrasonography. The detected abnormalities were confirmed by X-ray and autopsy following pregnancy termination. This observation indicates the possibility of prenatal