-
The Cleft Palate-craniofacial Journal :... Sep 2021The authors present findings and techniques to address hemipalatal discrepancy in patients with Tessier 7 cleft and associated cleft palate during cleft palatoplasty. (Review)
Review
OBJECTIVE
The authors present findings and techniques to address hemipalatal discrepancy in patients with Tessier 7 cleft and associated cleft palate during cleft palatoplasty.
DESIGN
The authors report 2 cases of pediatric patients with Tessier 7 facial clefts and associated cleft palate. One patient presents on the broader oculo-auriculo-vertebral spectrum and the other is has isolated Tessier cleft 7. Additionally, a PubMed search was performed using the MeSH terms "tessier 7," "cleft palate", "macrostomia," "tessier 7 AND cleft palate," "macrostomia AND cleft palate," AND "hemipalatal discrepancy." All relevant literature was identified and underwent full review for qualitative analysis.
RESULTS
Two patients met criteria for inclusion in this article. The surgical techniques utilized to mitigate the hemipalatal length discrepancy are detailed, and intraoperative photographs are provided. The results of the literature review are also presented. Tessier 7 craniofacial cleft and palatal clefts, when occurring in combination, is noted to result in discrepant hemipalatal length with short maxillary palate length on the affected side as well hypoplasia of the associated speech musculature. The postoperative palatal length after palatoplasty in both patients was longer than the preoperative hypoplastic palatal length.
CONCLUSIONS
When occurring in combination, Tessier 7 craniofacial cleft and concomitant palatal cleft results in discrepant hemipalatal length, and deficiency of the bony maxillary palatal shelves, and associated speech musculature and soft tissues. The techniques described in this article may assist in maximizing postoperative palatal length.
Topics: Child; Cleft Palate; Humans; Macrostomia; Maxilla; Plastic Surgery Procedures
PubMed: 33611933
DOI: 10.1177/1055665620984045 -
MedRxiv : the Preprint Server For... Feb 2024Oculoauriculovertebral Spectrum (OAVS) encompasses a wide variety of anomalies on derivatives from the first and second pharyngeal arches including macrostomia,...
BACKGROUND
Oculoauriculovertebral Spectrum (OAVS) encompasses a wide variety of anomalies on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular and vertebral anomalies. We present the genetic findings of a large three-generation family with multiple members affected with macrostomia, preauricular tags and uni- or bilateral ptosis following an autosomal dominant segregation pattern.
METHODS
We generated whole genome sequencing data for the proband, affected parent and unaffected paternal grandparent followed by Sanger sequencing on 23 family members for the top 10 candidate genes: and . We performed parent and sibling-based transmission disequilibrium tests and burden analysis to explore segregation and burden of candidate gene mutations. Bioinformatic analyses investigated the biological connection between genes and the abnormal phenotypes.
RESULTS
Overall, rare missense mutations in and showed the best evidence of segregation with the OAV phenotypes in this family. When considering affection with any of the 3 OAVS phenotypes as an outcome, parent-TDTs and sib-TDTs (unadjusted p-values) found that (p=0.025, p=0.052), followed by (p=0.180, p=0.069) and (p=0.180, p=0.069) have the strongest associations in this family. Burden analysis via a penalized linear mixed model identified (RC=0.87) and (RC=0.98) as having the strongest association with OAVS severity. Using phenotype-specific ogfrautcomes, sib-TDTs identified associations between (1) with uni- or bilateral ptosis (p=0.049) and ear tags (p=0.01), (2) and with ear tags (both p<0.01).
CONCLUSION
Our study reports the genomic findings of a large family with multiple individuals affected with OAVS phenotypes with autosomal dominant inheritance. Our findings narrow down to three potential candidate genes, , , and . Among these, has been previously associated with OAVS ear malformations and it is co-expressed with during ear development. Attempts to strengthen the genotype-phenotype co-relation underlying the OAVS of phenotypes are essential to discover the etiological factors leading to this complex and burdensome condition as well as for family counseling and prevention efforts.
PubMed: 38370836
DOI: 10.1101/2024.02.07.24301824 -
The Journal of Craniofacial Surgery May 2021Ablepharon macrostomia syndrome (AMS) is a rare condition with fewer than 20 cases being reported in the literature. Features of AMS include ablepharon, hypertelorism,...
Ablepharon macrostomia syndrome (AMS) is a rare condition with fewer than 20 cases being reported in the literature. Features of AMS include ablepharon, hypertelorism, macrostomia, dysplastic ears, sparse body hair, and ambiguous genitalia. The most significant phenotypic presentation is rudimentary eyelids resulting in exposure keratopathy, corneal abrasions, and potential blindness. Numerous methods including primary full thickness skin grafting, conjunctival sutures followed by full thickness skin grafting, and a combination of skin grafting and local flaps have been described for definitive eyelid reconstruction in these patients. The authors report the first case of autologous rib cartilage grafting and fat grafting for lower eyelid reconstruction in a patient with AMS.
Topics: Abnormalities, Multiple; Adipose Tissue; Costal Cartilage; Eye Abnormalities; Humans; Macrostomia; Ribs
PubMed: 33055564
DOI: 10.1097/SCS.0000000000007187 -
The Journal of Craniofacial Surgery Sep 2015Goldenhar syndrome is characterized by the typical features of craniofacial microsomia (CFM) with the addition of epibulbar dermoids and vertebral anomalies. The aim of... (Comparative Study)
Comparative Study
Goldenhar syndrome is characterized by the typical features of craniofacial microsomia (CFM) with the addition of epibulbar dermoids and vertebral anomalies. The aim of this study is to examine the objective differences between patients carrying a diagnosis of Goldenhar syndrome to those diagnosed with CFM. Thus, we performed an Institutional Review Board-approved retrospective chart review on all patients who presented with a diagnosis of CFM or Goldenhar syndrome from January 1990 to December 2012. Demographic, diagnosis, OMENS+ classification, accompanying diagnoses, and radiographic data were collected. For subjective analysis, subgroups were designed based on the diagnosis Goldenhar syndrome or CFM per history. For objective analysis, subgroups were designed based on the presence of epibulbar dermoids and/or vertebral anomalies. The cohorts were compared with respect to associated medical abnormalities and severity of CFM features. One hundred thirty eight patients met inclusion criteria. Epibulbar dermoids and vertebral anomalies were seen in 17% and 34% of the patients, respectively. Only 10 patients (7.2%) had both epibulbar dermoids and vertebral anomalies. The subjective "Goldenhar" group (N = 44, 32%) was found to have a higher percentage of bilaterally affected patients (P = 0.001), a more severe mandibular deformity (P = <0.001), a more severe soft tissue deformity (P = 0.01), and a higher incidence of macrostomia (P = 0.003). In the objective subgroup analysis, the only significant difference was found in the degree of soft tissue deficiency (P = 0.049). The diagnostic criteria of Goldenhar syndrome remain unclear, thereby making clinical use of the term "Goldenhar" inconsequential. Goldenhar syndrome is over diagnosed subjectively in patients who show more severe CFM features.
Topics: Child; Cohort Studies; Craniofacial Abnormalities; Dermoid Cyst; Diagnosis, Differential; Ear, External; Eyelid Neoplasms; Facial Nerve Diseases; Female; Goldenhar Syndrome; Heart Defects, Congenital; Humans; Imaging, Three-Dimensional; Kidney; Macrostomia; Male; Mandible; Orbit; Retrospective Studies; Spine; Tomography, X-Ray Computed; Tracheostomy
PubMed: 26267577
DOI: 10.1097/SCS.0000000000002017 -
The Journal of Craniofacial Surgery Jan 2016Macrostomia is a rare and debilitating congenital anomaly with incompletely understood etiopathogenesis. Despite the phenotypic variability in macrostomia, plastic...
Macrostomia is a rare and debilitating congenital anomaly with incompletely understood etiopathogenesis. Despite the phenotypic variability in macrostomia, plastic surgeons should demonstrate competence in the diagnosis and management of this condition. The anatomy, embryology, classification, and clinical presentation of macrostomia are reviewed in this manuscript. A historical overview of surgical repair is presented that forms the basis for understanding modern techniques of repair. Finally, an effective method of macrostomia repair is presented along with review of 5-year results. It is our intent that this guide serve as a reference for plastic and reconstructive surgeons to accomplish safe, functional, and aesthetic macrostomia reconstruction.
Topics: Anatomic Landmarks; Cicatrix; Dentofacial Deformities; Dermatologic Surgical Procedures; Facial Muscles; Female; Humans; Infant; Lip; Macrostomia; Mouth Mucosa; Postoperative Complications; Preoperative Care; Plastic Surgery Procedures; Surgical Flaps
PubMed: 26703052
DOI: 10.1097/SCS.0000000000002294 -
European Journal of Medical Genetics Feb 2019MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8...
INTRODUCTION
MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the literature for phenotypical and genetic aspects of previously described patients.
MATERIALS AND METHODS
In the search for genetic aberrations in individuals with ID, two of the patients were identified by chromosomal microarray analysis, and five by exome sequencing. One of the individuals, suspected of MED13L-related intellectual disability, based on clinical features, was identified by Sanger sequencing.
RESULTS
All 8 individuals had de novo MED13L aberrations, including two intragenic microdeletions, two frameshift, three nonsense variants, and one missense variant. Phenotypically, they all had intellectual disability, speech and motor delay, and features of the mouth (open mouth appearance, macroglossia, and/or macrostomia). Two individuals were diagnosed with autism, and one had autistic features. One had complex congenital heart defect, and one had persistent foramen ovale. The literature was reviewed with respect to clinical and dysmorphic features, and genetic aberrations.
CONCLUSIONS
Even if most clinical features of MED13L-related intellectual disability are rather non-specific, the syndrome may be suspected in some individuals based on the association of developmental delay, speech impairment, bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance.
Topics: Child; Child, Preschool; Craniofacial Abnormalities; Developmental Disabilities; Female; Humans; Intellectual Disability; Male; Mediator Complex; Mutation; Phenotype; Syndrome
PubMed: 29959045
DOI: 10.1016/j.ejmg.2018.06.014 -
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 -
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 -
International Journal of Surgery Case... Jan 2022• Congenital macrostomia is an uncommon facial malformation in children. • The choice of the surgical procedure should be based on functional, aesthetic results and...
• Congenital macrostomia is an uncommon facial malformation in children. • The choice of the surgical procedure should be based on functional, aesthetic results and the surgeon's experience. • Even in underdeveloped countries, Z-commissuroplasty could be performed with good results. • Further research should focus on long-term follow-up of large series, regardless of the type of surgical procedure.
PubMed: 34968985
DOI: 10.1016/j.ijscr.2021.106738 -
American Journal of Medical Genetics.... May 2017Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by...
Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria. Mandibular hypoplasia was observed in 86 patients with right-side preponderance (50). One patient had bilateral mandibular hypoplasia. Seventy-four had external ear anomalies (anotia or microtia). Eleven had bilateral malformed ears. Hearing impairment, associated with stenosis or atresia of the external ear canal, was found in 69 patients (eight with bilateral canal defects). Ocular anomalies were seen in 41 (23 with dermoid cysts) and 39 had orbital malformations. Facial nerve paralysis was observed in 38 patients. Cleft lip/palate (10), preauricular tags (55), and macrostomia (41) were also described. A total of 73/86 had systemic malformations, mainly vertebral (40), genitourinary (25), and cardiovascular (28). Sixteen had cerebral anomalies (four with intellectual disability). All patients suspected of HFM should undergo a complete systematic clinical and imaging investigation to define the full scope of anomalies. Since the disease is rare and complex, affected patients should be monitored by specialized multidisciplinary team centers.
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Cleft Lip; Cleft Palate; Ear, External; Facial Asymmetry; Female; Goldenhar Syndrome; Humans; Infant; Male; Mandible; Maxillofacial Abnormalities; Middle Aged; Young Adult
PubMed: 28319315
DOI: 10.1002/ajmg.a.38151