Publications by authors named "Norma Timoney"

Neonatal necrotising fasciitis secondary to , also known as Group B (GBS), is a rare, life-threatening entity with approximately 40 cases reported in the literature. GBS soft tissue infection in infancy most commonly affects the face, likely originating from the colonised oral cavity. In cases unresponsive to medical management alone, early surgical debridement can be life-saving.

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Introduction: Cleft Lip and/or Palate (CLP) are the most common congenital orofacial anomalies. Those involved in CLP care may extend beyond the core members of the Cleft multidisciplinary team (MDT) with a variety of medical healthcare professionals destined to contribute to the management of CLP patients at some point during their respective careers. Therefore, it seems essential that a basic understanding of CLP, CLP-associated problems, and potential avenues for direct or indirect involvement in CLP care be introduced at undergraduate level.

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Background: Trainees' experience in cleft surgery is limited due to the high-risk nature of the surgery and centralization of cleft care. Simulation training allows trainees to learn complex surgical tasks whilst ensuring patient safety. Existing cleft surgical simulators are over-simplified or prohibitively expensive.

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Objective: A significant proportion of the referrals made to a speech investigation clinic in a cleft unit include patients with non-cleft velopharyngeal dysfunction (VPD). This study aims to quantify the underlying diagnoses of these patients and describe the investigative pathway and diagnostic information subsequent to presentation in our clinic.

Materials And Methods: The case notes of 136 consecutive patients with non-cleft VPD who attended our Velopharyngeal Investigation (VPI) clinic from July 2014-December 2019 were reviewed.

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Article Synopsis
  • Holt-Oram syndrome (HOS) and Ulnar-Mammary syndrome (UMS) are rare heart-hand syndromes linked to mutations in the TBX5 and TBX3 genes, respectively, which are located close together on chromosome 12.
  • A large German family with 17 affected members over 6 generations has been identified with a duplication at the TBX5 and TBX3 genes, presenting symptoms of both syndromes.
  • This study is significant as it is the first to report a contiguous duplication of TBX3 and TBX5 associated with the combined clinical features of HOS and UMS.
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Background: Pierre Robin sequence (Robin sequence) is defined as the triad of micrognathia, glossoptosis, and airway obstruction. It is frequently associated with palatal clefting. In recent years, increased interest in speech outcomes of cleft patients diagnosed with Robin sequence has been shown.

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Objective: In patients with velocardiofacial syndrome (VCFS), medial displacement of the internal carotid arteries (ICAs) may increase the risk of vascular injury during the surgical correction of velopharyngeal dysfunction (VPD). Some surgeons advocate the use of vascular imaging studies prior to surgery. Nevertheless, the role of preoperative imaging is still controversial.

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Background: Education and training of local healthcare staff is a crucial component of a surgical mission. Facing The World (FTW) is a UK-based craniofacial charity that provides facial reconstructive surgery to children with complex, craniofacial anomalies. As part of its global initiative, FTW has developed a training outreach program in Vietnam.

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Composite tissue transplantation has emerged as a viable alternative to prosthetics and complex reconstructive surgery. Thus far it is reserved for cases which cannot be effectively reconstructed and where it offers some benefits over prostheses. It has been used in the upper extremity with encouraging results and, most recently, in the face.

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Johanson-Blizzard syndrome is rare and involves multiple congenital anomalies, including bilateral absence or deficiency of the nasal alae, giving the affected infant a characteristic appearance. Two cases are described that illustrate the difficulties of nasal reconstruction in young children. Surgical options and the timing of intervention are discussed.

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