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Journal of Maxillofacial and Oral... Mar 2015Tessier's 7 cleft or lateral facial cleft are unusual lesions that result from failure of the embryonic mandibular and maxillary process of the first branchial arch to...
Tessier's 7 cleft or lateral facial cleft are unusual lesions that result from failure of the embryonic mandibular and maxillary process of the first branchial arch to fuse properly and form the corners of the mouth. It may be seen alone or in combination with other anomalies, accompanied by varying degrees of severity. We report an extremely rare case of bilateral Tessier's 7 cleft along with maxillary duplication, macrostomia, bilateral posterior maxillary cleft, and mandibular retrusion in an 18-year-old male patient.
PubMed: 25838682
DOI: 10.1007/s12663-012-0346-x -
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 -
Clinical Case Reports Jul 2017Barber-Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. gene mutation previously described in this syndrome was...
Barber-Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.
PubMed: 28680619
DOI: 10.1002/ccr3.1014 -
Journal of Maxillofacial and Oral... Mar 2015Goldenhar syndrome, a variant of hemifacial microsomia, is a well-known developmental anomaly of maxillofacial skeleton that is apparent at birth. The first and second...
Goldenhar syndrome, a variant of hemifacial microsomia, is a well-known developmental anomaly of maxillofacial skeleton that is apparent at birth. The first and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that may include macrostomia and lateral facial clefts. Though clefts of the orofacial region are among the most common congenital facial defects, the occurrence of lateral facial clefts (Tessier 7 cleft) in conditions such as the Goldenhar syndrome, is very rare (<5%). The lateral facial cleft, which results because of improper development of the perioral muscles of the face, gives an appearance of macrostomia giving rise to potential psychological, aesthetic and feeding problems. This clinical report describes the closure of a Tessier 7 cleft and the use of distraction osteogenesis to treat mandibular asymmetry in an 11-year-old female patient with Goldenhar's syndrome.
PubMed: 25838668
DOI: 10.1007/s12663-011-0279-9 -
Human Molecular Genetics Jun 2017Twist transcription factors, members of the basic helix-loop-helix family, play crucial roles in mesoderm development in all animals. Humans have two paralogous genes,...
Twist transcription factors, members of the basic helix-loop-helix family, play crucial roles in mesoderm development in all animals. Humans have two paralogous genes, TWIST1 and TWIST2, and mutations in each gene have been identified in specific craniofacial disorders. Here, we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p.Glu117Val and p.Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding domain of TWIST1, in two subjects with frontonasal dysplasia and additional malformations. Although about one hundred different TWIST1 mutations have been reported in patients with the dominant haploinsufficiency Saethre-Chotzen syndrome (typically associated with craniosynostosis), substitutions uniquely affecting the Glu117 codon were not observed previously. Recently, subjects with Barber-Say and Ablepharon-Macrostomia syndromes were found to harbor heterozygous missense substitutions in the paralogous glutamic acid residue in TWIST2 (p.Glu75Ala, p.Glu75Gln and p.Glu75Lys). To study systematically the effects of these substitutions in individual cells of the developing mesoderm, we engineered all five disease-associated alleles into the equivalent Glu29 residue encoded by hlh-8, the single Twist homolog present in Caenorhabditis elegans. This allelic series revealed that different substitutions exhibit graded severity, in terms of both gene expression and cellular phenotype, which we incorporate into a model explaining the various human disease phenotypes. The genetic analysis favors a predominantly dominant-negative mechanism for the action of amino acid substitutions at this highly conserved glutamic acid residue and illustrates the value of systematic mutagenesis of C. elegans for focused investigation of human disease processes.
Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Amino Acid Sequence; Amino Acid Substitution; Animals; Base Sequence; Caenorhabditis elegans; Child; Child, Preschool; Disease Models, Animal; Eye Abnormalities; Haploinsufficiency; Helix-Loop-Helix Motifs; Humans; Macrostomia; Male; Mutation; Nuclear Proteins; Phenotype; Protein Domains; Repressor Proteins; Transcription Factors; Twist-Related Protein 1
PubMed: 28369379
DOI: 10.1093/hmg/ddx107 -
Case Reports in Ophthalmology 2015We describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids. This patient had many dysmorphic features...
We describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids. This patient had many dysmorphic features consistent with a severe phenotype of ablepharon-macrostomia syndrome (AMS) including a fish-like appearance of the mouth, rudimentary ears, absence of body hair, thin skin, absent nipples, abdominal distension, and genital abnormalities. Upon presentation, there was severe exposure keratopathy causing large bilateral sterile ulcers culminating in corneal melting of both eyes. An amniotic membrane graft was used to attempt to maintain the corneal surface integrity. However, because of the late presentation, the corneas could not be salvaged. Extensive surgical reconstruction of both eyelids and bilateral penetrating keratoplasty was ultimately performed successfully to protect the ocular surfaces while trying to maximize the visual potential. Early amniotic membrane grafting may be done at the bedside and may help preserve the ocular in patients with severe eyelid deformities until more definitive treatment is performed.
PubMed: 26600791
DOI: 10.1159/000441615 -
Case Reports in Pediatrics 2017An 18-month-old child presented with right macrostomia, bilateral preauricular skin tags, bilateral CTEV, squint in bilateral eyes, thoracic vertebral anomalies, right...
An 18-month-old child presented with right macrostomia, bilateral preauricular skin tags, bilateral CTEV, squint in bilateral eyes, thoracic vertebral anomalies, right sided aortic arch, and associated left pulmonary agenesis. The patient did not have any associated respiratory symptoms. Ipsilateral pulmonary agenesis is considered as a rare association with Goldenhar syndrome and a case of contralateral pulmonary aplasia has been described as an even rarer association.
PubMed: 28607792
DOI: 10.1155/2017/3529093 -
Annals of Surgery Dec 1949
Topics: Aged; Gastrointestinal Tract; Humans; Macrostomia; Mouth
PubMed: 15397289
DOI: 10.1097/00000658-194912000-00012 -
Diagnostics (Basel, Switzerland) Mar 2024Tessier 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...
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. It can appear as part of a syndrome, such as Treacher-Collins syndrome or Goldenhar/Orbito-Auriculo-Vestibular Spectrum, or as an isolated form (unilateral or bilateral) with variable expressions. Bilateral maxillary duplication in Tessier 7 cleft is considered extremely rare, accounting for only two previously presented cases. Given that the cases presented in the literature mainly focus on clinical appearance and surgical treatment, without providing sufficient imaging, we aim to present key radiological features of Tessier 7 cleft in terms of evaluating the involved structures, which is essential for the therapeutic approach and final outcome. A 17-year-old male with incompetent lips and orthodontic abnormalities was referred to our Radiology Department for orthopantomography (OPG) and CT examinations. Hetero-anamnestic data revealed a history of surgical treatment of the commissural cleft conducted 2 months after the birth to enable feeding. Intraoral examination showed a maxillary cleft and supernumerary teeth. Since the given clinical presentation was inconclusive, radiological diagnostics took precedence in elucidating this complex entity.
PubMed: 38611628
DOI: 10.3390/diagnostics14070714 -
Clinical Case Reports Oct 2014We reported a case of Barber-Say syndrome (BSS) in a Japanese newborn. Distinctive features of BSS were found; macrostomia, gingival dysplasia, cup-shaped low-set ears,...
We reported a case of Barber-Say syndrome (BSS) in a Japanese newborn. Distinctive features of BSS were found; macrostomia, gingival dysplasia, cup-shaped low-set ears, wrinkling redundant skin, and hypertrichosis. Fundus showed subretinal drusenoid deposits, a novel finding of BSS. Genetic analysis is underway using next-generation genome sequencing and microarray analysis.
PubMed: 25614816
DOI: 10.1002/ccr3.128