Anatomic approximation approach to correction of transverse facial clefts.

Transverse clefts of the oral cavity have significant impacts on both appearance and function. Many methods of repair have been described, but there is no consensus on optimal approach. In addition, dissatisfaction with scars, distortion of appearance, and recurrent deformity have led to complex surgical designs that are difficult to understand and reproduce. We describe a simple approach to repair that is based upon anatomic approximation of lip components and accurate repair of the muscle. Twenty patients underwent repair by the senior author, who devised the approach, and the corresponding author, who adopted it. Eight (62%) patients had right-sided clefts, three (23%) patients had left-sided clefts, and two (15%) patients had bilateral clefts. One patient had an associated branchial cleft remnant, two patients had multiple branchial cleft remnants and tragus deformities, one patient had craniofacial microsomia with microtia, and one patient had a contralateral Tessier 1 cleft. Mean age of the patients at repair was 23 months. All patients achieved normal oral competence, have favorable scars and commissure appearance, and have had no recurrent deformity. None of the patients have required revision. The described surgical approach is reproducible, easy to understand, and can produce favorable outcomes.

[Isolated bilateral macrostomia: case report and literature review]. / Macrostomía bilateral aislada: a propósito de un caso y revisión de la literatura.

INTRODUCTION: The macrostomia is a facial abnormality also called transverse facial cleft or Tessier cleft number 7. Macrostomia is a rare condition with an incidence from 1/80,000 to 1/300,000 live births. The left commisure is more commonly affected. Bilateral macrostomia is extremely rare, with only 10 to 20% of all cases of macrostomia, and 50% of bilateral cases are associated with different syndromes. To date just over 20 cases of isolated bilateral macrostomia have been described in the literature. CLINICAL OBSERVATION: We report the case of a patient with isolated bilateral macrostomia solved by surgery and with good aesthetic and functional results. COMMENTS: The treatment of bilateral macrostomia is surgical and should be done early. Although there are many techniques, the key is to recreate a new and correct commisure through a good reorientation of the orbicularis oris.

INTRODUCCION: La macrostomía es una anomalía facial denominada también fisura facial transversa o fisura tipo 7 de Tessier. Su aparición es muy rara, con una incidencia estimada de 1/80.000 a 1/300.000 nacidos vivos, siendo la forma unilateral izquierda la más frecuente. La macrostomía bilateral es extremadamente infrecuente, con solo 10 a 20% de todos los casos de macrostomía, y de estos el 50% se asocian a diferentes síndromes. Hasta la fecha solo se han descrito en la literatura poco más de 20 casos de macrostomía bilateral aislada. OBSERVACION CLINICA: Presentamos el caso de una paciente con macrostomía bilateral aislada resuelto mediante intervención quirúrgica y con buen resultado estético y funcional. COMENTARIOS: El tratamiento de la macrostomía bilateral es quirúrgico y debe realizarse precozmente. Aunque existen muchas técnicas, lo fundamental es recrear una nueva y correcta comisura a través de una buena reorientación del músculo orbicular de los labios.

Correção cirúrgica da macrostomia congênita unilateral e bilateral: relato de casos e revisão da literatura / Surgical correction of unilateral and bilateral congenital macrostomia: a case report and literature review

INTRODUÇÃO: A incidência da microssomia craniofacial é de 1 em 5600 nascidos vivos. É a segunda anomalia craniofacial mais comum após as fissuras labiais e palatinas. A fissura número 7 está associada entre 17 a 62% dos casos de microssomia hemifacial e começa na comissura labial, podendo prolongar-se até a linha capilar pré-auricular. As deformidades da orelha externa vão desde excesso de pele pré-auricular até ausência completa da orelha. A comissuroplastia está indicada em pacientes com macrostomia ou fissura facial lateral verdadeira. O objetivo é demonstrar dois casos de macrostomia e fazer uma revisão da literatura sobre o tema. MÉTODOS: Em nosso estudo descrevemos dois casos de macrostomia tratados com retalhos de mucosa e plástica em Z. RESULTADOS: Obtivemos um ótimo reposicionamento das comissuras nos dois pacientes, com excelente resultado estético. CONCLUSÃO: A técnica utilizada é de fácil reprodutibilidade e corrige a macrostomia estética e funcionalmente.

INTRODUCTION: The incidence of craniofacial microsomia is 1 in 5600 live births. This is the second most common craniofacial anomaly after cleft lip and palate. Tessier cleft 7 is associated with 17% to 62% of cases of hemifacial microsomia. It begins on the labial commissure and may extend to the pre-auricular capillary line. Deformities of the external ear range from excessive pre-auricular skin to complete absence of the ear. Commissuroplasty is indicated in patients with macrostomia or true lateral facial cleft. The objective is to present two cases of macrostomia and perform a review of related literature. METHODS: In this study, we describe two cases of macrostomia treated with mucous flaps and zetaplasty. RESULTS: We obtained optimal repositioning of labial commissures in two patients, with excellent aesthetic results. CONCLUSION: The technique used is easily reproducible, and aesthetically and functionally corrects macrostomia.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based solely upon the nature of the substituting amino acid: a lysine at TWIST2 residue 75 resulted in AMS, whereas a glutamine or alanine yielded BSS. TWIST2 encodes a basic helix-loop-helix transcription factor that regulates the development of mesenchymal tissues. All identified mutations fell in the basic domain of TWIST2 and altered the DNA-binding pattern of Flag-TWIST2 in HeLa cells. Comparison of wild-type and mutant TWIST2 expressed in zebrafish identified abnormal developmental phenotypes and widespread transcriptome changes. Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor's DNA binding.

Bilateral macrostomia.

Macrostomia as a rare facial deformity is classified among facial clefts. It is a rare congenital anomaly which affects the aesthetics and function of the oral cavity. It is usually associated with deformities of other structures developed from the first and second branchial arches. Bilateral transverse cleft occurring alone is uncommon. Here we report a case of bilateral macrostomia (bilateral lip cleft) in a 5-year-old girl as a sole entity without other skeletal and facial deformities.

Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.

We report on two sibs with marked global developmental delay, hearing loss, unusual facial morphology (hypertelorism, long philtrum, exaggerated cupid bow upper lip, thin upper vermilion, large mouth), and broad halluces which were partly bifid on radiographs. The phenotype in the sibs resembles acrocallosal syndrome but differs in absence of macrocephaly, underdeveloped callosal body, and post-axial polydactyly. The patients also resemble Greig cephalopolysyndactyly syndrome but the absence of macrocephaly, broad thumbs, polydactyly, affected sibs and parents make this diagnosis unlikely. Classical cytogenetic and array CGH failed to show an abnormality. The sibs may have a hitherto undescribed entity, possibly with an autosomal recessive pattern of inheritance.

Macrostomia: a study of 15 patients seen in Lagos, Nigeria and proposal for a classification of severity.

We made a descriptive epidemiological study of patients who presented with isolated macrostomia during a mass screening programme and repair of orofacial cleft deformities in Lagos, Nigeria. Detailed histories of environmental, gestational, and hereditary factors that may contribute to the malformation were taken, and physical examinations and specialist consultations to detect associated congenital malformations were made. Three patients had unilateral macrostomia and in 12 it was bilateral and symmetrical. The mean (SD) age was 8 (2) years, range 3 months to 32 years. There were 6 men and 9 women. Two women and one man had unilateral macrostomia; the two women presented with right sided involvement, while the man had left sided involvement. The commonest associated malformation was a low-set ear (n = 7). Other patients had combinations of congenital malformations. The mean (SD) age of the mothers at conception was 24 (1) years, range 18 to 32 years, while those of the fathers during the periods of conception were 35 (1) years, range 26 to 45. No gestational or environmental factors were detected in the history. One mother with unilateral presentation had a child with bilateral deformities.

An isolated bilateral pure macrostomia in a 2-year-old girl.

Congenital macrostomia is a lateral orofacial cleft between the maxillary and mandibular components of the first branchial arch. Bilateral macrostomia is a rare entity. To date, 17 cases have been reported in the literature, with more than 50% isolated. We present a case of bilateral transverse facial cleft (macrostomia) in a 2-year-old girl. It was not associated with any other anomaly. The cleft involved only the soft tissues of the face. Hence, it was a pure macrostomia. She was the third female child of the family, with 2 elder sisters normal. Nutritional deficiency during intrauterine life and/or advanced maternal age can be causative factors. Transverse facial cleft was closed by Z-plasty incision, with good functional and aesthetic result.

A paramedian cleft of the lower lip.

We report the unusual case of a baby with a paramedian cleft of the lower lip. In 1976, Tessier described a classification of craniofacial clefts based on personal observations, and he predicted the possibility of further clefts being discovered by labeling midline mandibular clefts "30." This case of a paramedian cleft of the lower lip would fit into what could be a new Tessier 28/29 cleft. In the future, clefts in new locations around the mouth may be seen, thus filling the gaps in Tessier's classification.

Bilateral transverse facial cleft as an isolated deformity: case report.

Transverse facial clefts are rare deformities, these mostly occur as part of syndromes such as facial dysostosis and branchial arch syndrome. This is a report of a case of isolated, asyndromic bilateral facial cleft seen at a semi-urban specialist hospital. Congenital facial defects remain sources of mental and social stress to the families. Infanticide, perhaps a thing of the past in the developed world may still be practiced in cases of congenital deformities in the developing countries, hence the need for early involvement of social workers and clinical psychologist in management.

Oculoauriculovertebral spectrum with 5p15.33-pter deletion.

A report of the sixth case with the oculoauriculovertebral phenotype with limb anomalies and 5p terminal deletion is described.

Ultrasound prenatal diagnosis of a lateral facial cleft (Tessier number 7).

Lateral facial clefting may occur as an isolated phenomenon or in association with other disorders. It may originate from a failed penetration of ectomesenchyme between the developing maxillary and mandibular prominences, but disruptive factors may also occur in a proportion of cases. The frequency of this abnormality is estimated as 1 in 50 000-175 000 live births. We describe a case of isolated symmetrical lateral facial cleft (number 7 according to the Tessier classification) diagnosed prenatally on ultrasound examination at 26 weeks of gestation.

Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation.

We report a Japanese girl with brachycephaly, a wide forehead, hypertelorism, macroblepharon with eyelid colobomas, ectropion, a broad nasal root, a depressed nasal tip, macrostomia, a small and grooved chin, ear anomalies, a structural anomaly of the corpus callosum, dilatation of the fourth ventricle, a urogenital sinus, and mental retardation. Cause and inheritance are unknown.

["Blueberry muffin baby"]. / "Blueberry muffin baby".

BACKGROUND: Blueberry muffin baby is a characteristic neonatal syndrome characterized by multiple dark-bluish skin nodules. The clinical significance and prognosis of this syndrome are variable. CASE REPORT: A male child was born to non-consanguinous parents. At birth, a polymalformative syndrome associated macrostomy, bilateral cryptochidy and hexadactyly. There were also about twenty firm dark-bluish skin nodules disseminated over the entire body. These skin lesions regressed spontaneously within one month. Pathology examination of a skin nodule showed lymphomonocyte proliferation. Immunostaining favored T cell infiltration without monoclonal proliferation. Medullar genome mapping showed evidence of a fragile site on the end of chromosome 20. At 8 months the child had normal development. DISCUSSION: We attributed this blueberry muffin baby syndrome to T cell proliferation but we were unable to distinguish between extramedullary leukopoiesis and leukemia. Despite the absence of systematic disease and the complete regression, no exact diagnosis and prognosis could be established in the case. The association of blueberry muffin baby syndrome with a polymalformative syndrome was probably related to a genetic anomaly on chromosome 20 not previously reported.

Morphometric analysis of the primary and permanent dentitions in hemifacial microsomia: a controlled study.

Hemifacial microsomia (HFM), a developmental abnormality involving the first and second branchial arches, is one of the most common craniofacial abnormalities. Although the general presentations of hemifacial microsomia--such as unilateral microtia, macrostomia, and hypoplasia of the mandibular ramus and condyle--are wellknown, the effects on the teeth are not well-documented. This study examined the primary and permanent tooth dimensions of dental casts of 50 hemifacial microsomia patients compared with those of 50 normal control patients matched for sex and dental status. The results showed that the mesiodistal dimensions of the mandibular second primary molar and the mandibular permanent first molar teeth on the affected side in hemifacial microsomia were significantly smaller compared with those of control teeth (p < 0.001). Furthermore, in the maxillary and mandibular first permanent molars and the maxillary and mandibular first and second primary molars, the teeth in the apparently "normal" side of hemifacial microsomia were also significantly reduced in the mesiodistal dimensions. Comparison of overall dimensions revealed that all primary and permanent molars in hemifacial microsomia were significantly smaller in the mesiodistal dimensions compared with control teeth. A general gradient effect was observed, with the most posterior tooth in each arch being the most severely affected and no effect being seen in the canines and the incisors. These findings suggest that the dental lamina in hemifacial microsomia is affected, and support the hypothesis that its pathogenesis involves an abnormality of the neural crest. Furthermore, these results also support the concept that hemifacial microsomia is a bilateral rather than a unilateral condition.

Focal dermal hypoplasia syndrome with incomplete transverse facial cleft and tumour of the lips.

A case of Goltz's syndrome complicated with both incomplete transverse facial cleft and characteristic tumour of the upper and lower lips is presented. Tumour excision and repair of defect were successfully performed.

Anatomical considerations in the repair of macrostomia.

Macrostomia is a deformity that occurs alone or in combination with other anomalies as a result of a failure of merging of the maxillary and mandibular processes of the first branchial arch. In an attempt to restore normal anatomy, a repair has been designed that includes provision of a lighter shade, rounded, nonrugated vermilion surface for the new oral commissure. The muscular ring is also reconstructed, and a Z-plasty is incorporated into the skin closure. In the patient described, an interesting band of fibrotic tissue was identified in the cleft, connecting the upper and lower orbicularis muscle bundles. Histologically, this tissue resembled scarred muscle fibers. A five-year follow-up is provided.

[Current therapeutic trends in the oto-mandibular syndrome]. / Attuali orientamenti terapeutici nella sindrome oto-mandibolare.

The authors describe the characteristics of oto-mandibular syndrome (hemifacial microsomia), underlining that the knowledge of the craniofacial growth and the analysis of the deformities are necessary for a correct surgical approach. The skeletal abnormalities, and in particular the mandibular deformity, are the first step of treatment, which is begun more and more often before the age of six to minimize the skeletal distortion and to decrease the psychological problems of the child. Nevertheless, several surgical procedures are generally required up to the age of 12-16 to obtain a good symmetry. The reconstruction of the ear is deferred, whenever possible, until the mandibular and zygomatic osseous framework have been established to avoid a location in an unfavorable site. The earliest age of repair is six years. Early correction of macrostomia is needed in order to obtain a functioning and symmetric oral sphincter. The possible deficiency of soft tissues does not always require surgery and is the last step of treatment of hemifacial microsomia.