ABSTRACT
Ablepharon macrostomia syndrome (AMS; OMIM 200110) is an extremely rare congenital malformation syndrome. It overlaps clinically with Fraser syndrome (FS; OMIM 219000), which is known to be caused by mutations in either FRAS1, FREM2, or GRIP1, encoding components of a protein complex that plays a role in epidermal-dermal interactions during morphogenetic processes. We explored the hypothesis that AMS might be either allelic to FS or caused by mutations in other genes encoding known FRAS1 interacting partners. No mutation in either of these genes was found in a cohort of 11 patients with AMS from 10 unrelated families. These findings demonstrate that AMS is genetically distinct from FS. It is proposed that it constitutes a separate entity within the group of FRAS-FREM complex disorders.
Subject(s)
Abnormalities, Multiple/genetics , Abnormalities, Multiple/physiopathology , Eye Abnormalities/genetics , Eye Abnormalities/physiopathology , Fraser Syndrome/genetics , Macrostomia/genetics , Macrostomia/physiopathology , Abnormalities, Multiple/etiology , Carrier Proteins/genetics , Extracellular Matrix Proteins/genetics , Eye Abnormalities/etiology , Female , Fraser Syndrome/physiopathology , Humans , Macrostomia/etiology , Male , Mutation , Nerve Tissue Proteins/genetics , PhenotypeABSTRACT
OBJECTIVE: First and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that encompass diverse, superimposed, and heterogeneous phenotypes within the so-called oculoauriculovertebral spectrum. Nine members of a Brazilian family presenting typical branchial arch involvement in association with external opthalmoplegia are reported. CONCLUSION: Macrostomia or abnormal mouth contour, preauricular tags, and uni- or bilateral ptosis were present in association in several patients. To our knowledge, this is the first report on this type of autosomal dominant condition. Clinical and genetic aspects are discussed.
Subject(s)
Branchial Region/abnormalities , Goldenhar Syndrome/complications , Macrostomia/etiology , Ophthalmoplegia/etiology , Blepharoptosis/etiology , Brazil , Ear, External/abnormalities , Female , Genes, Dominant , Goldenhar Syndrome/pathology , Humans , Infant, Newborn , Pedigree , SyndromeABSTRACT
OBJECTIVE: To examine the prevalence of dental anomalies in the deciduous and permanent teeth, ectopic eruption of permanent first molars, and associated oral malformations in individuals with Treacher Collins syndrome. STUDY DESIGN: Clinical and radiographic examination of 15 patients with Treacher Collins syndrome, from the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo, not submitted to orthodontic or orthognathic treatment. RESULTS: Dental anomalies were present in 60% of the sample, with 1-8 anomalies per individual. Hypoplastic dental anomalies were the most common, followed by heterotopic and hyperplastic dental alterations. The most frequent anomalies were tooth agenesis (33.3%), mainly affecting the mandibular second premolars, and enamel opacities (20% of patients). Ectopic eruption of the maxillary first molars was found in 13.3% of subjects. Associated oral malformations, primarily isolated cleft palate, followed by complete cleft lip and palate and macrostomia, were observed in 66.7% of patients. CONCLUSIONS: Presence of cleft palate associated with the syndrome is in agreement with the literature. The high prevalence of dental anomalies suggests a possible etiologic relationship, not described in the literature so far, between such alterations and the Treacher Collins syndrome. Further investigations on larger samples are required to confirm these results.
Subject(s)
Mandibulofacial Dysostosis/complications , Tooth Abnormalities/etiology , Tooth Eruption, Ectopic/etiology , Adolescent , Anodontia/etiology , Child , Child, Preschool , Cleft Lip/etiology , Cleft Palate/etiology , Dental Enamel Hypoplasia/etiology , Humans , Macrostomia/etiology , Molar/pathologyABSTRACT
A case of bilateral macrostomia type transverse facial cleft of Tessier n. 4 is reported, which was operated on with good results when had ten months of age, repaired using suture of three planes of three embryonic folds. A treatment plain precocious is recommended and pathogenic theories about this uncommon entity are exposed.
Subject(s)
Craniofacial Abnormalities/complications , Macrostomia/etiology , Craniofacial Abnormalities/surgery , Humans , Infant , MaleABSTRACT
Failure of the shoulders to deliver after delivery of the head is known as shoulder dystocia. The risk factors associated with its occurrence were examined in women delivering vaginally at Jordan University Hospital. The profile of the patient most likely to present with shoulder dystocia was determined to be a multiparous, obese patient, over 42 weeks' gestation in a pregnancy complicated by preeclampsia or diabetes with an infant weighing 4,500 g or more. Neonatal complications were noted to be high. There was no maternal death but 4 stillborn infants were delivered and 1 died in the immediate neonatal period.
