Background: Macrostomia as a rare facial deformity is classified among facial clefts. It originates from failure in union of maxillary and mandibular prominences of first brachial arch during 7(th) embryonic week.
Case Presentation: We report a case of bilateral macrostomia (bilateral lip cleft) in a female newborn as a sole entity without other skeletal and facial deformities. The cleft was repaired by a simple linear triangular flap using extra oral landmarks to locate lip commissures. Patient was followed through a six-month period. Acceptable results were gained in mouth appearance as well functional aspects.
Conclusion: Commissural repair through a linear flap can result in minimal visible scar with satisfying results in both esthetics and functional aspects.
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Diagnostics (Basel)
March 2024
Center for Radiological Diagnostics, School of Dental Medicine, University of Belgrade, 11000 Belgrade, Serbia.
Tessier No. 7 cleft, known as lateral facial cleft, is a rare and understudied entity with an incidence of 1/80,000-1/300,000 live births. Besides perioral tissue abnormalities manifesting as macrostomia, Tessier 7 cleft also involves anomalies of the underlying bony structures.
View Article and Find Full Text PDFmedRxiv
July 2024
College of Dentistry and Dental Clinics, University of Iowa, Iowa City, IA, USA.
Background: Oculoauriculovertebral Spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular and vertebral anomalies. We present genetic findings on a three-generation family affected with macrostomia, preauricular tags and uni- or bilateral ptosis following an autosomal dominant 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 via a penalized linear mixed model, for segregation and mutation burden respectively.
Cleft Palate Craniofac J
February 2024
Department of Plastic and Reconstructive Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Objective: To evaluate the long-term outcomes of linear commissuroplasty and linear skin closure with a focus on commissural migration.
Design: Retrospective study.
Patients: Individuals who underwent transverse facial cleft repair at a single institution between 2004 and 2021.
J Plast Reconstr Aesthet Surg
October 2023
Reconstructive Sciences Unit, Department of Surgery, Hospital Universiti Sains Malaysia, Jalan Raja Perempuan Zainab II, Kubang Kerian, 16150 Kota Bharu, Kelantan, Malaysia; Reconstructive Sciences Unit, Faculty of Medicine and Health Sciences, Universiti Sains Malaysia, Kubang Kerian, 16150 Kota Bharu, Kelantan, Malaysia. Electronic address:
Introduction: Tessier cleft 7 are rare craniofacial clefts. Live-birth incidence varies from 1/80,000 to 1/300,000, with the incidence of 1 in 120 craniofacial clefts among Asians. Its clinical presentation varies widely in severity, thus, complicating diagnosis and contributing to the lack of consensus regarding its surgical management.
View Article and Find Full Text PDFOphthalmic Genet
December 2023
Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Purpose: Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify genetic syndromes associated with cryptophthalmos to facilitate genetic diagnosis.
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