OGO 6217 Klippel feil syndrome prenatal ultrasonographic diagnosis
✍ Scribed by S Romaris; Giudice Del; M. Viela; L. Kopcow; D. Grill; A. Clavelli
- Book ID
- 104325109
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 103 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0301-5629
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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.
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