DermKnowledgeBASE: Beare stevenson Cutis Gyrata Syndrome

Beare stevenson Cutis Gyrata Syndrome

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The text is the summary of recent articles on Beare stevenson Cutis Gyrata Syndrome at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.

BSS presents with craniosynostosis, cutis gyrata, and significant developmental delay in most patients who survive infancy [1]. The change in rates of Bone volume growth occurs similarly for all bones of the skull, regardless of origin, location or association with craniosynostosis [2]. This study reveals the pleiotropic effects of the FGFR2 Y394C mutation evidenced by cutis gyrata, acanthosis nigricans, and craniosynostosis and provides a useful model for investigating the molecular mechanisms of skin and skull development [3]. When conventional fronto-orbital advancement is attempted in these cases, side walls of the orbit cannot go forward, because the width of bony orbit is smaller than the eyeball [4]. Five patients with pfeiffer syndrome, 1 with Crouzon, and 1 with Beare-Stevenson cutis gyrata syndrome were treated with this method [5].

At birth, the patient had ocular proptosis, a red nevus with skin tags on her forehead and an umbilical stump [6]. She developed craniosynostosis, craniofacial dysmorphism and hydrocephalus [7]. Her treatment included Forehead and facial advancement and a ventriculoperitoneal shunt [8]. The patient shares several clinical characteristics of Beare-Stevenson syndrome such as cutis gyrata, cloverleaf skull, prominent Eyes, Cleft Palate, Ear defects and a protruding umbilical stump [9]. We now describe the detection of FGFR2 Mutations in the Beare-Stevenson cutis gyrata syndrome [10].

The patient developed congenital hydrocephalus, upper airway obstruction and breath holding spells [11]. It was assumed that the respiratory problems in our patient are ascribable to the Chiari malformation as well as the upper airway obstruction [12].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 ,

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