Prenatal sonographic appearance of Beare-Stevenson cutis gyrata syndrome
نویسندگان
چکیده
منابع مشابه
Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene.
Beare-Stevenson syndrome (BSS) (MIM#123790) is a rare disorder characterized by craniofacial anomalies and cutis gyrata associated with anogenital anomalies and prominent umbilical stump. There are few reports on the syndrome, and molecular analysis has revealed the involvement of two closely spaced mutations within the FGFR2 gene: c.1115C↷G (p.S372C) and c.1124C↷G (p.Y375C). We herein describe...
متن کاملImaging findings of chronic subluxation of the os odontoideum and cervical myelopathy in a child with Beare-Stevenson cutis gyrata syndrome after surgery to the head and neck.
INTRODUCTION Although uncommon, fractures of the os odontoideum are known to occur in children under 7 years old, following acute trauma. CLINICAL PICTURE We report a case of chronic subluxation of the os odontoideum resulting in cervical myelopathy in a child with Beare-Stevenson cutis gyrata syndrome after surgery to the head and neck. TREATMENT AND OUTCOME The patient was initially put i...
متن کاملBeare-Stevenson syndrome: Two South American patients with FGFR2 analysis.
We report two patients with Beare-Stevenson syndrome. This syndrome presents craniosynostosis with or without clover-leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular...
متن کاملCutis verticis gyrata.
Acta Neurologica Taiwanica Vol 15 No 2 June 2006 From the Departments of Neurology and Radiology, Lotung St Mary’s Hospital, I-Lan, Taiwan. Received October 19, 2005. Revised October 25, 2005. Accepted October 31, 2005. Reprint requests and correspondence to: Zen-Yong Chen, MD. Department of Neurology, Lotung St Mary’s Hospital, No. 160, Chong-Cheng S. Road, I-Lan, Taiwan. E-mail: [email protected]...
متن کاملRecent Progess on the Inverse Galois Problem
I discuss three problems related to the geometric regular realization of groups as Galois groups The rst two are over Q the last is over C Let k be the algebraic closure of a nite eld I decided against adding a fourth progress on describing fundamental groups of projective curves over k We expect these groups will be di erent for each conjugacy class of curves Still combining work of Fried Stev...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics and Gynecology
سال: 2001
ISSN: 0960-7692
DOI: 10.1046/j.1469-0705.2001.abs28-4.x