Using three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome
نویسندگان
چکیده
منابع مشابه
Three-dimensional ultrasound of massive macroglossia in a fetus with Beckwith-Wiedemann syndrome
We present the prenatal ultrasound findings of massive macroglossia in a fetus with prenatally diagnosed Beckwith-Wiedemann syndrome. Three-dimensional surface mode ultrasound was utilized for enhanced visualization of the macroglossia.
متن کاملPfeiffer syndrome
Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three...
متن کاملCraniosynostosis: diagnostic imaging with three-dimensional CT presentation.
PURPOSE To measure diagnostic performance and preference of two three-dimensional CT reconstruction modalities (voxel-gradient and surface-projection) displayed two ways (conventional and unwrapped) in craniosynostosis confirmed by surgical inspection and histologic analysis of resected sutures. METHODS High-resolution 2-mm contiguous CT sections were obtained and three-dimensional reconstruc...
متن کاملOphthalmic considerations in patients with Pfeiffer syndrome
Purpose We report here a newborn male infant with striking features consistent with severe Pfeiffer syndrome type II, including cloverleaf skull deformity with pansynostosis, extreme proptosis, upper extremity contractures, broad big toes and thumbs with varus deviation and genetic mutation in the FGFR2 gene. The authors review the ophthalmic complications in Pfeiffer syndrome and discuss the u...
متن کاملA Case of Pfeiffer Syndrome
Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers ...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics and Gynecology
سال: 2000
ISSN: 0960-7692
DOI: 10.1046/j.1469-0705.2000.00178.x