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JPRAS Open Dec 2019Several variations on the surgical technique for macrostomia repair have been described in the literature. There has been controversy regarding the preferred method for...
INTRODUCTION
Several variations on the surgical technique for macrostomia repair have been described in the literature. There has been controversy regarding the preferred method for commissuroplasty and skin closure for optimal functional and aesthetic results. The aim of this study is to present these techniques and the most described methods up to date.Further, five patients operated with a combination of techniques are presented.
MATERIAL AND METHODS
PRISMA guidelines were followed for literature review.Five consecutive patients with unilateral macrostomia operated during a period of one and a half years at our craniofacial department were included in this study.
RESULTS
31 studies on macrostomia repair were obtained. The layered closure technique is widely described with several variations on closure of the inner mucosa, orbicularis muscle, commissure and skin. The inner mucosal layer is in most cases sutured with a straight line closure technique. The muscle is most often duplicated and sutured with upper branches overlapping lower branches. The skin is in most cases sutured with either a z- or a w-plasty with variations.The five presented patients all had satisfactory functional and aesthetic results at follow-up.
CONCLUSION
Many variations of surgical techniques for macrostomia repair have been presented in the past. We believe that each case of macrostomia needs to be assessed with a tailored surgical plan in order to create the best results. A combination of different techniques with Bütow and Botha's and Kaplan's technique as a starting point, is believed to give satisfactory functional and aesthetic results.
PubMed: 32158892
DOI: 10.1016/j.jpra.2019.07.004 -
Medicine Oct 2019Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutations in GPC3 or in both GPC3 and GPC4. Physical manifestations of SGBS1 include fetal overgrowth and...
RATIONALE
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutations in GPC3 or in both GPC3 and GPC4. Physical manifestations of SGBS1 include fetal overgrowth and macrostomia, macroglossia. Subclinical hypothyroidism has never been reported in SGBS1 cases.
PATIENT CONCERNS
An 8-days-old boy was referred to our hospital with persistent hypoglycemia and special facies. And the infant showed elevated levels of thyroid-stimulating hormone (TSH). Free T4 and free T3 were normal.
DIAGNOSES
Definitive diagnosis of SGBS1 depends on clinical features and genetic testing. A nonsense mutation (c.1515C > A, p. Cys505*) was tested by whole-exome sequencing.
INTERVENTIONS
Normal blood glucose levels were maintained with glucose infusions. Levothyroxine was given to the patient for treating subclinical hypothyroidism.
OUTCOMES
The parents decided to abandon the treatment of the patient. We learned that the patient died of a lung infection by a telephone follow-up.
LESSONS
Subclinical hypothyroidism could be added to the known clinical manifestations of SGBS1.
Topics: Arrhythmias, Cardiac; China; Diagnosis, Differential; Fatal Outcome; Genetic Diseases, X-Linked; Gigantism; Heart Defects, Congenital; Humans; Hypothyroidism; Infant, Newborn; Intellectual Disability; Male
PubMed: 31651874
DOI: 10.1097/MD.0000000000017616 -
Journal of Plastic, Reconstructive &... Dec 2019Outcomes from surgical repair of transverse facial cleft (macrostomia) may not be very satisfactory when conventional methods are used to position the oral commissure to... (Observational Study)
Observational Study
OBJECTIVE
Outcomes from surgical repair of transverse facial cleft (macrostomia) may not be very satisfactory when conventional methods are used to position the oral commissure to be repaired. To improve patient outcomes, we developed a modified oral commissure positioning and reconstruction method for transverse facial cleft repair.
METHOD
In the modified positioning method, the oral commissure at the abnormal side was positioned precisely and reconstructed by a combination of two conventional methods, namely, the distance measurement method and the anatomical charateristics method. The function of the orbicularis oris muscle was preserved. Postoperative surgical scar score and oral commissure symmetry score were determined and compared between patients and healthy controls. The scores ranged from one to five, with one representing the best and five indicating the worst results.
RESULTS
Nine patients aged 4-31 months (7 girls) underwent the modified transverse facial cleft repair surgery. All the patients had unilateral transverse facial cleft with or without microsomia and/or complete cleft lip. The patients were followed up for one to five years. Although average surgical scar scores of patients (close-mouth: 1.8 ± 0.8, range: 1.0-2.8; open-mouth: 1.8 ± 0.9, range 1.0-3.6) remained significantly higher (P < 0.05) than those of the healthy controls (N = 8, close-mouth 1.1 ± 0.4, range: 1.0-1.4, open-mouth: 1.1 ± 0.3, range: 1.0-1.2) 6 months after the surgery, their average close-mouth oral commissure symmetry score (1.9 ± 0.7, range: 1.6-2.8) was similar (P = 0.381) to those of the healthy controls (1.8 ± 0.8, range: 1.0-2.6).
CONCLUSIONS
The modified procedure appears to lead to promising long-term benefit on restoring oral commissure symmetry.
Topics: Case-Control Studies; Child, Preschool; Cicatrix; Female; Humans; Infant; Macrostomia; Male; Mouth; Postoperative Complications; Retrospective Studies; Suture Techniques; Treatment Outcome
PubMed: 31562029
DOI: 10.1016/j.bjps.2019.08.003 -
BMC Pulmonary Medicine Aug 2019Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the...
BACKGROUND
Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the disease present abnormalities in ectoderm-derived structures mainly consisting in major facial dysmorphic features and rarely in visceral anomalies. The only laryngo-tracheal defect reported is malacia, with no reference to any anatomical stenosis. We describe a unique case of laryngo-tracheal stenosis in a woman, with genetically confirmed AMS currently followed at our Department.
CASE PRESENTATION
A 37-year-old Caucasian woman was admitted to the intensive care unit for acute dyspnea that required orotracheal intubation followed by tracheostomy. The bronchoscopy revealed abnormal tracheal tissue at the level of the cricoid and the first three tracheal rings reducing airway caliber by 80% (grade III according to the Cotton-Meyer classification). Treatment of the stenosis by means of temporary tracheostomy and corticosteroids therapy resulted in airway patency restoration and patient's return to her normal activities. Bronchoscopy at four and five months showed disappearance of the abnormal tissue and a residual anatomical laryngo-tracheal stenosis of about 20% (grade I according to the Cotton-Meyer classification) of the normal airway caliber.
CONCLUSIONS
To our knowledge, this is the first patient affected by AMS presenting with laryngo-tracheal stenosis.
Topics: Abnormalities, Multiple; Adrenal Cortex Hormones; Adult; Dyspnea; Eye Abnormalities; Female; Humans; Intubation, Intratracheal; Macrostomia; Mutation; Trachea; Tracheal Stenosis; Tracheostomy
PubMed: 31462237
DOI: 10.1186/s12890-019-0921-8 -
Ophthalmic Plastic and Reconstructive... 2020To describe the late results of the placement of skin graft over conjunctiva-Müller muscle complex in 3 patients with ablepharon-macrostomia syndrome (AMS) and to...
PURPOSE
To describe the late results of the placement of skin graft over conjunctiva-Müller muscle complex in 3 patients with ablepharon-macrostomia syndrome (AMS) and to review the procedures used to manage the upper eyelids in AMS.
METHODS
The authors searched the Pubmed database for all articles that used the term "ablepharon-macrostomia syndrome" in any field. Data collection included description of eyelid changes, age at surgery, status of the cornea before surgery, type of eyelid repair, and final outcome. Two previously reported siblings were reevaluated 10 and 15 years after a single reconstructive operation. A new case from Peru is also described.
RESULTS
Only 15 patients with AMS have been described in 12 articles. In 60% of the cases, the lids were described as absent. The surgical modalities employed to reconstruct the upper eyelids were quite variable, including local flaps, lid sharing procedures, and even a masquerade flap. At long-term follow-up, all 3 cases who underwent upper eyelid lengthening with full thickness skin grafts placed over Müller muscle had clear corneas with a small amount of lagophthalmos.
CONCLUSIONS
The lids in AMS are not absent and should not be managed with complex reconstructive techniques. Full thickness skin grafts placed over the inner aspect of the palpebral conjunctiva allow permanent eye protection.The upper eyelids in ablepharon-macrostomia syndrome can be permanently lengthened with full thickness skin grafts over Müller muscle.
Topics: Abnormalities, Multiple; Eye Abnormalities; Eyelids; Humans; Macrostomia; Plastic Surgery Procedures
PubMed: 31373987
DOI: 10.1097/IOP.0000000000001442 -
Taiwanese Journal of Obstetrics &... Jul 2019We present a case with prenatal diagnosis of Treacher-Collins syndrome in which micrognathia and other facial and ear abnormalities were described using a three- and...
OBJECTIVE
We present a case with prenatal diagnosis of Treacher-Collins syndrome in which micrognathia and other facial and ear abnormalities were described using a three- and four-dimensional (3D/4D) ultrasonography in utero.
CASE REPORT
A 39-year-old Japanese pregnant woman was referred because of polyhydramnios at 29 weeks' gestation. Conventional ultrasonography showed a hypoplastic mandible on the sagittal section of fetal head. Continuous observation using a 3D ultrasonography additionally demonstrated bilateral downslanting palpebral fissures with symmetry and macrostomia as well as micrognathia. Both ears were microtia and no polydactyly or missing fingers were found.
CONCLUSION
The advantage of the rendering mode of 3D images covering entire face including ears and limbs was enhanced by a continuous observation, so called 4D ultrasonography, under a condition of polyhydramnios, providing visual diagnosis in utero.
Topics: Abnormalities, Multiple; Adult; Female; Gestational Age; Humans; Imaging, Three-Dimensional; Magnetic Resonance Imaging; Mandibulofacial Dysostosis; Micrognathism; Polyhydramnios; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Rare Diseases; Syndrome; Ultrasonography, Doppler; Ultrasonography, Prenatal
PubMed: 31307753
DOI: 10.1016/j.tjog.2019.05.024 -
Journal of Plastic Surgery and Hand... Aug 2019Various techniques have been performed for repairing transverse facial clefts. This study aimed to investigate an optimal method for repairing transverse facial clefts....
Various techniques have been performed for repairing transverse facial clefts. This study aimed to investigate an optimal method for repairing transverse facial clefts. Twenty-seven patients from 2008 to 2017 were evaluated. Their mean age at repair was 6.7 months with a follow-up period of 6 months to 10 years. A method using an inferior lip-based triangular mucosa flap and a superior lip-based rectangular vermilion-mucosa flap was designed for transposition. The orbicularis oris was reconstructed by using everting mattress suture. The skin was sutured using linear cutaneous closure with a single superiorly rotated Z-plasty lateral to the commissure. A postoperative symmetrical commissure was obtained owing to complete contraction with the new commissure directed 2 or 3 mm medial to the symmetrical point on the lips individually for the 27 patients. Lateral displacement of the reconstructed commissure was not observed. The patients showed a plump and symmetrical cheek on the cleft side. Twenty-one patients with hemifacial microsomia achieved a prominent improvement compared with their preoperative appearance, although the postoperative cheeks still did not show fullness because of the lesser facial tissue on the cleft side. In the early follow-up period, most patients showed a minimal scar during movement. However, the scar became thinner and symmetrical oral movement was achieved over time. This method obtained a natural oral movement without a conspicuous scar and was reliable and remarkable for the postoperative appearance of commissural symmetry. We conclude that this is an optimal method to repair transverse facial clefts.
Topics: Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Macrostomia; Male; Mouth Mucosa; Plastic Surgery Procedures; Surgical Flaps; Suture Techniques
PubMed: 31116613
DOI: 10.1080/2000656X.2019.1588739 -
Indian Dermatology Online Journal 2019Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and...
Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and macrostomia. A literature review showed less than 20 previously reported cases of Barber Say syndrome. This presentation reports a one day old female with syndrome face, low hairline, coarse face, macrostomia, thin upper lip, bilateral ectropion and hypertelorism, hypertrichosis, senile skin appearance, hypoplastic nipples and one area of mild skin atrophy. These findings are consistent with BSS.
PubMed: 30984591
DOI: 10.4103/idoj.IDOJ_68_18 -
Archives of Plastic Surgery Jan 2019Various surgical techniques have been used to correct Tessier number 7 craniofacial cleft, which involves macrostomia, ear deformity, and hemifacial microsomia. To...
BACKGROUND
Various surgical techniques have been used to correct Tessier number 7 craniofacial cleft, which involves macrostomia, ear deformity, and hemifacial microsomia. To achieve symmetrical and satisfactory results in patients with macrostomia, the authors performed a 1-mm medial overcorrection on the cleft side and evaluated the results of this procedure.
METHODS
A retrospective medical record review of patients diagnosed with Tessier number 7 craniofacial cleft from March 1999 to February 2017 was performed. Using clinical photographs, outpatient clinic records, and operative records, information was recorded regarding concurrent congenital anomalies, postoperative complications, and follow-up. Using Photoshop CS2, the length of both sides of the lip was compared. The ratio of these lengths was calculated to evaluate lip symmetry.
RESULTS
Of the patients treated at the Department of Plastic and Reconstructive Surgery at Kyungpook National University Chilgok Hospital, 11 (male-to-female sex ratio, 7:4) were diagnosed with Tessier number 7 craniofacial cleft. Concurrent congenital anomalies included skin tag, hemifacial microsomia, and cleft palate. The mean duration of follow-up was 78.273±72.219 months and the mean ratio of the lengths of both sides of the lip was 1.048±0.071. Scar widening occurred as a postoperative complication in some patients. No cases of wound infection, bleeding, or wound dehiscence occurred.
CONCLUSIONS
For the successful correction of macrostomia, plastic surgeons should consider both functional and aesthetic problems of the lip. Adequate repair of the orbicularis oris muscle, skin closure with Z-plasty, and medial overcorrection of the neo-oral commissure led to good results in our patients.
PubMed: 30685937
DOI: 10.5999/aps.2018.01193 -
Archivos de La Sociedad Espanola de... Apr 2019Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is...
Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge. The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms.
Topics: Blepharoplasty; Eyelid Diseases; Hirsutism; Humans; Hypertelorism; Hypertrichosis; Infant, Newborn; Macrostomia; Male; Patient Care Team; Skin Abnormalities
PubMed: 30455119
DOI: 10.1016/j.oftal.2018.09.009