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Bernard Devauchelle

Publications and source records attributed to Bernard Devauchelle.

5 recordsLinked to original sources

First human face allograft: early report.

BACKGROUND: Extended soft tissue defects of the face are difficult to reconstruct, and autologous tissue transfers usually lead to poor cosmetic and functional outcomes. We judged that composite tissue transplantation could be valuable in facial reconstructive surgery. METHODS: We transplanted the central and lower face of a brain-dead woman onto a woman aged 38 years who had suffered amputation of distal nose, both lips, chin, and adjacent parts of the cheeks. Transplantation consisted of revascularisation of right and left facial arteries and veins (ischaemic time 4 h), mucosal repair of oral and nasal vestibules, bilateral anastomoses of infraorbital and mental sensitive nerves, joining of mimic muscles with motor nerve suture on mandibular branch of the left facial nerve, and skin closure. Immunosuppressive treatment was with thymoglobulin, tacrolimus, mycophenolate mofetil, and prednisone. Two infusions of donor bone-marrow cells were given. Follow-up included routine tests, biopsies, physiotherapy, and psychological support. FINDINGS: The initial postoperative course was uneventful. No surgical complication occurred. Bone-marrow graft and immunosuppression were well tolerated. Mild clinical signs of rejection were seen at day 20. Increased corticoids initially did not reverse rejection, but signs of rejection disappeared after three boluses of prednisone. Anatomical and psychological integration and recovery of sensation were excellent. At the end of the first postoperative week, the patient could eat, and speech improved quickly. Passive transmission of muscle contractions to the graft already exists; physiotherapy is being done to restore dynamic motions around the lips. INTERPRETATION: The 4-month outcome demonstrates the feasibility of this procedure. The functional result will be assessed in the future, but this graft can already be deemed successful with respect to appearance, sensitivity, and acceptance by the patient.

Adult↗

Cleft palate and Beckwith-Wiedemann syndrome.

OBJECTIVE: Patients with Beckwith-Wiedemann syndrome suffer numerous anomalies, which vary somewhat from case to case. Cleft palate in combination with this syndrome has rarely been reported in the literature. Through two cases, this report examines the staging of the surgical repairs and the role of macroglossia in cleft palate and the consequences of the scarred palate on mandibular development. RESULTS: Of four patients with Beckwith-Wiedemann syndrome, only two had a cleft palate. The timing of the repair in these two children was different. Speech development was satisfactory in the first case but mediocre in the second. This result seemed to be related to a poor social environment. Mandibular prognathism persisted in both cases. CONCLUSION: The treatment of patients with cleft palate and Beckwith-Wiedemann syndrome remains complex. It is preferable not to operate on a cleft palate before performing a tongue reduction plasty, but rather to combine these two surgical interventions. This would reduce the risks of anesthesia and enable the palate to heal more efficiently. Surgical treatment should be performed after the age of 6 months and before problems in speech development occur. An orthognathic surgery at adolescence could be performed if prognathism persists. While the origin of the cleft palate is still being discussed, we cannot claim that macroglossia is related to the development of cleft palate, nor that the scarred palate has an impact on the mandibular development.

Adult↗

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).

Translocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the best-known consequences of such exchanges is sex reversal in 46,XX males and some 46,XY females, due to exchange in the paternal germline of terminal portions of Xp and Yp, including the SRY gene. Translocations of Xp segments to the Y chromosome result in functional disomy of the X chromosome with an abnormal phenotype and sex reversal if the DSS locus, mapped in Xp21, is present. We describe a 7-month-old girl with severe psychomotor retardation, minor anomalies, malformations, and female external genitalia. Cytogenetic analysis showed a 46,X,mar karyotype. The marker was identified as a der(Y)t(Xp;Yp) by fluorescence in situ hybridisation analysis. Further studies with specific locus probes of X and Y chromosomes made it possible to clarify the break points and demonstrated the presence of two copies of the DAX1 gene, one on the normal X chromosome and one on the der(Y). The karyotype of the child was: 46,X,der(Y)t(X;Y)(p21.2;p11.3). The syndrome resulted from functional disomy Xp21.2-pter, with sex reversal related to the presence of two active copies of the DAX1 gene located in Xp21. Few cases of Xp disomy with sex reversal have been reported, primarily related to Xp duplications with 46,XY karyotype, and less often to Xp;Yq translocations. To our knowledge, our patient with sex reversal and a t(Xp;Yp) is the second reported case.

Abnormalities, Multiple↗