Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation.

Trisomy 14 is incompatible with live, but there are several patients reported with mosaic trisomy 14. We aimed to study the pattern of X inactivation and its effect on a translocated autosome and to find out an explanation of the involvement of chromosome 14 in 2 different structural chromosomal abnormalities. We report on a girl with frontal bossing, hypertelorism, low-set ears, micrognathia, cleft palate, congenital heart disease, and abnormal skin pigmentations. The patient displayed iris, choroidal, and retinal coloboma and agenesis of the corpus callosum and cerebellar vermis hypoplasia. Cytogenetic analysis revealed a karyotype 45,X,der(X)t(X;14)(q24;q11)[85]/46,XX,rob(14;14)(q10;q10),+14[35]. Array-CGH for blood and buccal mucosa showed high mosaic trisomy 14 and an Xq deletion. MLPA detected trisomy 14 in blood and buccal mucosa and also showed normal methylation of the imprinting center. FISH analysis confirmed the cell line with trisomy 14 (30%) and demonstrated the mosaic deletion of the Xq subtelomere in both tissues. There was 100% skewed X inactivation for the t(X;14). SNP analysis of the patient showed no region of loss of heterozygosity on chromosome 14. Also, genotype call analysis of the patient and her parents showed heterozygous alleles of chromosome 14 with no evidence of uniparental disomy. Our patient had a severe form of mosaic trisomy 14. We suggest that this cytogenetic unique finding that involved 2 cell lines with structural abnormalities of chromosome 14 occurred in an early postzygotic division. These 2 events may have happened separately or maybe there is a kind of trisomy or monosomy rescue due to dynamic cytogenetic interaction between different cell lines to compensate for gene dosage.

3D printing guided surgery in the treatment of unicoronal craniosynostosis orbital dysmorphology.

PURPOSE: The purpose of our study was to improve the minor asymmetries of fronto-orbital advancement (FOA) by introducing a simple model to guide the FOA in unicoronal synostosis which may help saving time and cost. METHODS: A retrospective analysis of 16 consecutive patients with unicoronal synostosis corrected by FOA guided by a guide model. Patients with syndromic craniosynostosis or associated craniofacial anomalies were excluded from the analysis. In all cases, 3D mirror image models were used for guiding unilateral fronto-orbital advancement. Demographic, perioperative, and follow-up data were collected for comparison. Cranial and orbital volumes were documented preoperatively and postoperatively and compared with the non-synostotic side. The postsurgical appearance of the face was documented photographically and then evaluated and scored using the Whitaker scoring system. RESULTS: The study included nine males and seven females. The mean age of the patients at the time of the operation was 20.4 months. The mean follow-up duration was 36 months. Mean operative time was 170 min, mean anesthetic time was 230 min, mean blood loss was 50-80 ml, and the average hospital stay was 4.4 days. No relapse that required surgical correction was reported. There were improvements in the orbital indices and volume to be near equal to the normal side. Excellent to good results were obtained in all patients according to the Whitaker classification system. CONCLUSION: Residual deformity after FOA mandates another tool to optimize the results. Our study introduced a simple, easy, and applicable method to guide the FOA with lesser asymmetries.

Extended Bifurcated Superficial Temporal Artery Island Flap for the Reconstruction of a Periorbital Burn: A Case Report.

A 47-year-old man with severe thermal burn injury to the face, including bilateral periorbital regions, presented with bilateral upper and lower ectropion with loss of both eyebrows. The periorbital area was reconstructed with the extended bifurcated superficial temporal artery flap with two islands extending out of territory to restore both eyebrows, lower eyelid, and add length to upper eyelid. After 12 months of the operation, the patient showed complete resolution of postburn sequels in addition to a high grade of satisfaction.

Superficial temporal artery flap for reconstruction of complex facial defects: A new algorithm.

BACKGROUND: A variety of island flaps can be based on the superficial temporal artery with variable tissue composition. They can be used for defect reconstruction, cavity resurfacing, facial hair restoration, or contracture release. METHODS: Seventy-two patients underwent facial reconstruction using a superficial temporal artery island flap from October 2010 to October 2014. The defects had various etiologies, including trauma, burns, tumors, exposed hardware, and congenital causes. We classified the patients by indication into 5 groups: cavity resurfacing, contracture release, facial hair restoration, skin coverage, and combined. The demographic data of the patients, defect characteristics, operative procedures, postoperative results, and complications were retrospectively documented. The follow-up period ranged from 24 to 54 months. RESULTS: A total of 24 females and 48 males were included in this study. The mean age of the patients was 33.7±15.6 years. The flaps were used for contracture release in 13 cases, cavity resurfacing in 10 cases, skin coverage in 17 cases, facial hair restoration in 19 cases, and combined defects in 13 cases. No major complications were reported. Conclusion: Based on our experiences with the use of superficial temporal artery island flaps, we have developed a detailed approach for the optimal management of patients with composite facial defects. The aim of this article is to provide the reader with a systematic algorithm to use for such patients.

Bifurcated Superficial Temporal Artery Island Flap for the Reconstruction of a Periorbital Burn: An Innovation.

BACKGROUND: Facial burns represent between one-fourth and one-third of all burns. The long-term sequelae of periorbital burns include significant ectropion and lagophthalmos as a result of secondary burn contractures in the lower and upper eyelids, in addition to complete or incomplete alopecia of the eyebrows. METHODS: A retrospective study of 14 reconstructive procedures for 12 postburn faces was conducted with all procedures performed since 2010 at the Department of Plastic Surgery, Al-Hussein University Hospital, and at the Craniofacial Unit, Nasser Institute Hospital. Four patients experienced chemical burns, and 8 patients experienced thermal burns. All patients underwent periorbital reconstruction using a bifurcated superficial temporal artery island flap to reconstruct the eyebrows, correct the lagophthalmos, and release the ectropion in both the upper and the lower eyelids. Two patients underwent bilateral periorbital flap reconstruction. The mean age of patients was 29 years, and the study was conducted on 8 males and 4 females. Patient satisfaction was assessed using a questionnaire completed by all patients postoperatively. RESULTS: The complete release of both the upper and the lower eyelids was achieved in all cases, together with ideal replacement of brow hair; no complications were noted, apart from one case in which a loss of hair density in the new eyebrow was observed, combined with the partial loss of the flap in the lower eyelid. Patient satisfaction results were collected and assembled in a table. CONCLUSION: A bifurcated superficial temporal artery island flap is an innovative flap for reconstructing both burned eyebrows and eyelids.