Contouring of zygomatic soft tissue using bilateral free groin flaps in a Treacher Collins syndrome patient

Klippel-Trenaunay syndrome (KTS) is a congenital disorder associated with capillary, venous, lymphatic vascular malformations, and unilateral hypertrophy of the soft tissue and bone. We report a case of a 5-year-old girl with KTS who was followed up until age 17. The asymmetry of her maxillary dentition became remarkable with growth, although no significant left-right difference in either the maxilla or mandible was recognized. Acceptable occlusion was achieved without fixed orthodontic appliances; however, it was necessary to develop treatment plans in accordance with the general symptoms of the disease.

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Intubating a Treacher Collins Syndrome patient with STRIVE Hi and videolaryngoscopy

Journal of Anaesthesia and Critical Care Reports ◽

10.13107/jaccr.2020.v06i02.147 ◽

2020 ◽

Vol 6 (2) ◽

Keyword(s):

Spontaneous Breathing ◽

High Flow ◽

Treacher Collins Syndrome ◽

Spontaneous Respiration ◽

Craniofacial Abnormalities ◽

Syndrome Patient ◽

Successful Intubation ◽

Intravenous Anaesthesia ◽

Induction Technique ◽

Difficult Airways

Treacher Collins Syndrome (TCS) is characterised by craniofacial abnormalities which pose a unique airway challenge for anaesthetists. For these patients requiring general anaesthesia and endotracheal intubation, maintaining spontaneous breathing throughout induction should be considered foundational to safety. Spontaneous respiration using intravenous anaesthesia and high-flow nasal oxygen (STRIVE Hi) has been previously shown to safely induce patients with difficult airways. This case demonstrates the first described successful intubation of an adult TCS patient with hyperangulated blade videolaryngoscopy “GlideScope LoPro S4” using a STRIVE Hi induction technique. Key Words: Treacher Collins Syndrome intubation, STRIVE Hi, Videolaryngoscopy.

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New Trends In Treacher Collins Syndrome: Bony Reconstruction And Regenerative Therapy

American Journal of Surgical Research and Reviews ◽

10.28933/ajsrr-2021-05-3106 ◽

2021 ◽

pp. 22

Author(s):

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Keyword(s):

Soft Tissue ◽

De Novo ◽

Treatment Strategies ◽

Fat Grafting ◽

Treacher Collins Syndrome ◽

Comparative Genomic ◽

Soft Tissue Reconstruction ◽

De Novo Mutations ◽

Differentiation Potential ◽

Characteristic Appearance

Aim:Treacher Collins syndrome is a rare congenital disorder of craniofacial development with a highly variable pheonotype. This syndrome occurs with an incidence of 1:50,000, and more than 60% of the cases have no previous family history and arise as the result of de novo mutations. The disorder displays an intricate underlying dysmorphology. Affected patients may suffer life-threatening airway complications and functional difficulties involving sight, hearing, speech, and feeding. Deformation of facial structures produces a characteristic appearance that includes malar-zygomatic hypoplasia, periorbital soft tissue anomalies, maxillomandibular hypoplasia, and ear anomalies. Management requires a specialized craniofacial team, as comprehensive care starts at birth and may require life-long follow-up. Standard craniofacial procedures for bony and soft tissue reconstruction are used. This article outlines current treatment strategies and future concepts for surgical and regenerative management. Methods:The new field of regenerative medicine and therapy offers the promise to improve some of these treatments. In particular, Structural Fat Grafting (lipostructure) seems to be a good strategy to restore the normal volume and contour of the face, and to provide a source of adipose-derived stem cells (ADSCs) with a multilineage differentiation potential. In this work, we present the case of a young girl with Treacher Collins Syndrome who underwent serial sessions of fat grafting in addition to other surgical bony reconstructive techniques. ADSCs have been isolated from the patient’s lipoaspirate, and compared for their stemness properties with those of a healthy subject. Conclusion:Screening of the genome of the Treacher Collins patient using array-Comparative Genomic Hybridization (array-CGH) allowed us to identify some chromosomal imbalances that are probably associated with the syndrome.Correction of these imbalances and asymmetries by modulating ADSCs could be an innovative approach to improve and stabilize the results of the surgical treatment of Treacher Collin Syndrome.

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