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European Journal of Paediatric Dentistry Feb 2023Macrostomia, or lateral cleft lip, which is known as Tessier cleft type 7, is one of the rarest facial anomalies. The purpose of this review is to describe the main... (Review)
Review
AIM
Macrostomia, or lateral cleft lip, which is known as Tessier cleft type 7, is one of the rarest facial anomalies. The purpose of this review is to describe the main characteristics, epidemiology, aetiology and treatment of this anomaly.
METHODS
We present an overview of surgical techniques as well as a review of all 36 cases of bilateral asyndromic macrostomia reported to this da in the literature. Furthermore, we report the case of a 4-month male infant with bilateral transverse cleft lip and analyse the treatment decision and the procedure itself.
CONCLUSION
Early diagnosis and surgical intervention are crucial in treating children with these malformations. Adequate timely reconstruction plays a main role in both physical and psychological rehabilitation.
Topics: Child; Infant; Humans; Male; Cleft Lip; Macrostomia
PubMed: 36853212
DOI: 10.23804/ejpd.2023.24.01.10 -
Clinical Genetics Aug 2023DNA Topoisomerase IIβ (TOP2B) acts on DNA topology during transcription and has a critical role in neural development. Heterozygous pathogenic changes in its encoding... (Review)
Review
DNA Topoisomerase IIβ (TOP2B) acts on DNA topology during transcription and has a critical role in neural development. Heterozygous pathogenic changes in its encoding gene, TOP2B (MIM *126431), has been linked with three overlapping phenotypes characterized by immunodeficiency, acral and urogenital anomalies: Hoffman, BILU and Ablepharon-macrostomia-like syndrome. We herein report on a mother and two sons with distinct TOP2B-phenotype. Two males reported further delineated genital phenotype of males and all reported patients were reviewed for genotype-phenotype correlation. We believe the patients reported herein along with the previously defined 11 represent a phenotypic spectrum from mild-to-severe immunological, acral and urogenital involvement, for which we propose the acronym "TOP2B-related Immunodeficiency and Congenital Anomalies Spectrum (TICAS)".
Topics: Male; Humans; DNA-Binding Proteins; DNA; Phenotype; Poly-ADP-Ribose Binding Proteins; DNA Topoisomerases, Type II
PubMed: 37068767
DOI: 10.1111/cge.14341 -
The Journal of Craniofacial Surgery Jun 2022Macrostomia is arare congenital craniofacial deformity that influences the appearance and function of patients. In most cases, it coexists with craniomaxillofacial...
Macrostomia is arare congenital craniofacial deformity that influences the appearance and function of patients. In most cases, it coexists with craniomaxillofacial deformities such as craniofacial microsomia (CFM). This study aimed to analyze the relationship between macrostomia and mandibular hypoplasia so as to facilitate the early detection and diagnosis of children with CFM. It included 236 patients diagnosed with CFM. All underwent facial expression analysis, multi-angle photography, computed tomography, and three-dimensional reconstruction of soft and hard tissues. The clinical classification was performed according to OMENS+. Spearman (rank) correlation analysis was used to analyze the relationship between the severity of macrostomia (C1 and C2) and the degree of mandibular involvement (M1, M2a, M2b, and M3), and the correlation among the components of OMENS+. Of the 80 cases of macrostomia (34%) reported, 72 cases (90%) were C1 and 8 (10%) were C2. The analysis of OMENS+ revealed significant correlations among OMENS+ components. Also, a high correlation was observed between macrostomia (C) and hypoplasia of the mandible (M) ( P = 0.002). Macrostomia was closely related to mandibular hypoplasia among children diagnosed with CFM. These results suggested that patients with macrostomia, who might also have craniofacial malformations caused by other first branchial arch anomalies, should be comprehensively physically examined for other syndromes.
Topics: Child; China; Goldenhar Syndrome; Humans; Macrostomia; Mandible; Micrognathism
PubMed: 35045015
DOI: 10.1097/SCS.0000000000008247 -
Ophthalmic Genetics Dec 2023Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be...
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.
METHODS
We performed a retrospective medical record review of all patients diagnosed with cryptophthalmos followed at a single center between 2000 and 2020. The analysis included medical history, clinical examination findings, and genetic testing results.
RESULTS
Thirteen patients were included, 10 (77%) males, mean age of 2.4 years. Eight (61%) had bilateral cryptophthalmos, and 4 (31%) had complete cryptophthalmos. Associated ocular abnormalities included corneal opacities (13/13, 100%), upper eyelid colobomas (12/13, 92%), and microphthalmia/clinical anophthalmia (3/13, 23%). All cases of complete cryptophthalmos had bilateral disease. An underlying clinical or molecular diagnosis was identified in 10/13 (77%) cases, including Fraser syndrome ( = 5), amniotic band syndrome ( = 1), -related disease ( = 1), Goldenhar versus Schimmelpenning syndrome ( = 1), MOTA syndrome ( = 1), and -related disease ( = 1).
CONCLUSION
This is the first report of a possible association between cryptophthalmos and biallelic variants. Children with cryptophthalmos, especially those with extra-ocular involvement, should be referred for comprehensive genetic evaluation.
Topics: Infant, Newborn; Child; Male; Humans; Child, Preschool; Female; Microphthalmos; Retrospective Studies; Syndrome; Anophthalmos; Eyelids; Rare Diseases
PubMed: 37493047
DOI: 10.1080/13816810.2023.2237568 -
Journal of Medical Genetics Sep 2017Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral 'scar-like' facial lesions. Four subtypes are classified by... (Review)
Review
Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral 'scar-like' facial lesions. Four subtypes are classified by the bitemporal (FFDD1-3) or preauricular (FFDD4) lesion location. FFDD1-3 are differentiated by additional facial abnormalities and inheritance patterns. Although the genetic defects causing FFDD1 and FFDD2 remain unknown, recent studies identified defects causing FFDD3 and FFDD4. Here, the clinical phenotypes, genetic defects and inheritance of the four FFDD subtypes are described. In addition, the overlapping facial abnormalities in FFDD3 and two other genetic disorders, Ablepharon macrostomia syndrome and Barber-Say syndrome, are noted. Familiarity with the FFDDs by clinicians will further delineate the phenotypes and genetic/developmental defects of these dermal facial disorders.
Topics: Ectodermal Dysplasia; Face; Female; Focal Dermal Hypoplasia; Focal Facial Dermal Dysplasias; Genetic Heterogeneity; Humans; Male; Phenotype; Skin Diseases
PubMed: 28663233
DOI: 10.1136/jmedgenet-2017-104561 -
PLoS Biology Dec 2023Ciliopathies are associated with wide spectrum of structural birth defects (SBDs), indicating important roles for cilia in development. Here, we provide novel insights...
Ciliopathies are associated with wide spectrum of structural birth defects (SBDs), indicating important roles for cilia in development. Here, we provide novel insights into the temporospatial requirement for cilia in SBDs arising from deficiency in Ift140, an intraflagellar transport (IFT) protein regulating ciliogenesis. Ift140-deficient mice exhibit cilia defects accompanied by wide spectrum of SBDs including macrostomia (craniofacial defects), exencephaly, body wall defects, tracheoesophageal fistula (TEF), randomized heart looping, congenital heart defects (CHDs), lung hypoplasia, renal anomalies, and polydactyly. Tamoxifen inducible CAGGCre-ER deletion of a floxed Ift140 allele between E5.5 to 9.5 revealed early requirement for Ift140 in left-right heart looping regulation, mid to late requirement for cardiac outflow septation and alignment, and late requirement for craniofacial development and body wall closure. Surprisingly, CHD were not observed with 4 Cre drivers targeting different lineages essential for heart development, but craniofacial defects and omphalocele were observed with Wnt1-Cre targeting neural crest and Tbx18-Cre targeting epicardial lineage and rostral sclerotome through which trunk neural crest cells migrate. These findings revealed cell autonomous role of cilia in cranial/trunk neural crest-mediated craniofacial and body wall closure defects, while non-cell autonomous multi-lineage interactions underlie CHD pathogenesis, revealing unexpected developmental complexity for CHD associated with ciliopathies.
Topics: Animals; Mice; Cilia; Heart Defects, Congenital; Embryonic Development; Carrier Proteins; Skull; Ciliopathies
PubMed: 38079449
DOI: 10.1371/journal.pbio.3002425 -
Molecular Syndromology Jun 2017Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the gene. Both...
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adult woman offered personal testimonies. We focused on perception of illness, body satisfaction, and the consequences for an otherwise normal individual who has a disorder that interferes with body image. The importance of paying particular attention to the management of both the physical appearance and the consequences of these entities on the quality of life is stressed by the affected individuals themselves.
PubMed: 28690482
DOI: 10.1159/000472408 -
Journal of Stomatology, Oral and... Oct 2022Congenital macrostomia is a rare congenital deformity that consists of an enlargement of the commissure of the mouth. The malformation may be unilateral or bilateral and...
Congenital macrostomia is a rare congenital deformity that consists of an enlargement of the commissure of the mouth. The malformation may be unilateral or bilateral and has a polymorphic presentation. Various surgical techniques have been described to correct macrostomia, with only a few cases illustrating the expected results. The surgical repair must consider both esthetic as well as functional impacts for the patient. We here propose a technical note to refine and provide additional information for good achievement of "Double Reversing Z-Plasty" for correction of macrostomia. Our case series also reports good long-term functional and esthetic results obtained with this technique, especially in case of a minor cleft.
PubMed: 35346869
DOI: 10.1016/j.jormas.2022.03.016 -
Cornea Jul 2018To report a case of ablepharon-macrostomia syndrome and surgical treatment options. (Review)
Review
PURPOSE
To report a case of ablepharon-macrostomia syndrome and surgical treatment options.
METHODS
Case report and literature review.
RESULTS
A prematurely born male baby presented with severe ablepharon, hypertelorism, macrostomia, low-set dysplastic ears, broad nasal bridge, coarse and redundant body skin, absent scalp and body hair, lax abdominal wall, absent nipples, camptodactyly, and ambiguous genitalia. Despite intensive ocular lubrication, severe exposure keratopathy developed within the first days after birth. The eyes were closed using masquerade flaps for 6 weeks. In a secondary procedure at the adjusted age of 3 weeks, the flaps were partially divided, and visual input and development were successfully achieved, while maintaining corneal protection.
CONCLUSIONS
We present a rare case of a prematurely born infant with a severe phenotype of ablepharon-macrostomia syndrome, surgically treated with masquerade flaps to preserve corneal health and allow bilateral visual input.
Topics: Abnormalities, Multiple; Cornea; Eye Abnormalities; Eyelids; Humans; Infant, Newborn; Macrostomia; Male; Ophthalmologic Surgical Procedures; Surgical Flaps; Treatment Outcome
PubMed: 29538102
DOI: 10.1097/ICO.0000000000001563 -
Cirugia Pediatrica : Organo Oficial de... Jan 2016The 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... (Review)
Review
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.
Topics: Humans; Macrostomia
PubMed: 27911070
DOI: No ID Found