-
Clinical Case Reports Nov 2023This study describes prosthetic rehabilitation an edentulous patient with microstomia. Maxillary preliminary and definitive impression were made by intraoral scanning...
This study describes prosthetic rehabilitation an edentulous patient with microstomia. Maxillary preliminary and definitive impression were made by intraoral scanning and custom 2-piece impression tray respectively to fabricate conventional denture.
PubMed: 37900713
DOI: 10.1002/ccr3.7904 -
Neurology India 2023We report a 24-year-old male with blepharophimosis, psychomotor retardation, brachycephaly, microstomia, immobile face, high arched palate, single palmar crease,...
We report a 24-year-old male with blepharophimosis, psychomotor retardation, brachycephaly, microstomia, immobile face, high arched palate, single palmar crease, kyphoscoliosis, talipes equinovarus, inguinal hernia, pyloric stenosis, recurrent infections, bilateral camptodactyly, wide-set eyes, decreased muscle mass, hypotonia, exotropia, and ptosis in the left eye, growth retardation, multiple congenital contractures, and hyporreflexia. Contractures improved with aging, but intellectual disability and blepharophimosis remained. He also presented epilepsy, outbursts of laughter, and predisposition to drug adverse effects (skin lesions with carbamazepine and secondary parkinsonism).
Topics: Male; Humans; Young Adult; Adult; Blepharophimosis; Syndrome; Abnormalities, Multiple; Contracture; Intellectual Disability
PubMed: 37635513
DOI: 10.4103/0028-3886.383870 -
International Journal of Clinical... Aug 2023Moebius syndrome (MBS) is a rare congenital nonprogressive neuromuscular disorder characterized by partial or complete, unilateral or bilateral paralysis of the facial...
UNLABELLED
Moebius syndrome (MBS) is a rare congenital nonprogressive neuromuscular disorder characterized by partial or complete, unilateral or bilateral paralysis of the facial (VII) and abducens (VI) cranial nerves (CNs). In this syndrome bilateral facial palsy may occur with the involvement of VII CN and impaired eye movements can be there because of the involvement of VI CN. It can also be associated with other CN palsies, orofacial anomalies, and limb defects. MBS is diagnosed exclusively on the basis of clinical criteria, although causative genetic patterns are being documented in recent studies. The present case report describes the dental management of a 5-year-old child diagnosed with MBS. The child presented with the abnormal shape of legs, incomplete eye closure during sleep, inability to smile, lingual hypoplasia, microstomia, and hypoplastic teeth among other dental-skeletal abnormalities, and a clinical diagnosis of MBS was made.
HOW TO CITE THIS ARTICLE
Mittal M, Kumar A, Chopra R, Diagnosis and Dental Management of a Child with Moebius Syndrome: A Case Report. Int J Clin Pediatr Dent 2023;16(S-1):S109-S112.
PubMed: 37663216
DOI: 10.5005/jp-journals-10005-2626 -
Cureus Jul 2023Otocephaly is a rare congenital abnormality characterized by the absence or underdevelopment of the mandible, misplacement of the ears towards the front, a small mouth,...
Otocephaly is a rare congenital abnormality characterized by the absence or underdevelopment of the mandible, misplacement of the ears towards the front, a small mouth, and absence or underdevelopment of the tongue. The syndrome complex of otocephaly can be categorized into four types based on associated anomalies. We present a case of this congenital anomaly in a newborn baby delivered by a 40-year-old woman who presented in active labor with premature rupture of membranes. Unfortunately, the newborn did not survive due to severe respiratory distress, which was consistent with the clinical features of this congenital anomaly. The rarity of otocephaly poses challenges for both parents and healthcare providers. Early antenatal scans are suggested for the early diagnosis of this condition. Further research and awareness are needed to better understand and manage this rare congenital disorder.
PubMed: 37575700
DOI: 10.7759/cureus.41767 -
Journal of Clinical Medicine Jan 2024Lower lip reconstruction is crucial to restore oral integrity post-cancer excision. A perfect balance between form and function should be achieved. With an aging...
BACKGROUND
Lower lip reconstruction is crucial to restore oral integrity post-cancer excision. A perfect balance between form and function should be achieved. With an aging demographic, adapting surgical methods to meet the unique needs of the elderly becomes imperative. Our study aims to introduce a specialized algorithm for lower lip reconstruction; it was tailored to geriatric patients and emphasized the use of "simpler flaps". Additionally, "Pearls and Pitfalls" were provided for surgeons approaching lower lip reconstruction.
METHODS
Between January 2018 and June 2021, a retrospective study was carried out. Data collection included patient demographics, defect attributes, reconstructive approaches, flap viability assessment, wound healing, and complications. The follow-up was carried out for a period of a minimum of 6 months.
RESULTS
Among 78 patients, squamous cell carcinoma predominated with a mean defect area of 3308 cm. Postoperative complications were recorded in two patients. All patients reported sensory restoration and overall satisfaction at the 6-month follow-up; secondary procedures were not necessary.
CONCLUSION
Our reconstructive algorithm, focused on elderly patients, prioritizes less invasive reconstructive techniques and introduces innovative modifications to the established methods to achieve both aesthetic and functional outcomes with a low complication rate. In patients undergoing lower lip reconstruction, the subjective microstomia was found to be less relevant than the objective microstomia.
PubMed: 38256687
DOI: 10.3390/jcm13020554 -
European Journal of Medical Genetics Jun 2024Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and...
Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and distinctive facial features. LRS is caused by a recurrent homozygous variant in B4GALT7 gene with a founder effect in La Réunion population. Proteoglycans (PG) that are a major component of the extracellular matrix, are composed of a core protein connected to a glycosaminoglycans side chain via a tetrasaccharide linker region. B4GALT7 encodes galactosyltransferase I, one of the enzymes involved in the biosynthesis of the linker region. Conditions caused by pathogenic biallelic variants in genes implicated in the synthesis of the tetrasaccharide linker of PG are known as linkeropathies. Prenatal features are rarely described in this group of chondrodysplasias. We present a series of 12 unpublished patients having LRS and describe the perinatal phenotype. All the patients had a prenatal growth restriction with brevity of limbs. The other features revealed by ultrasounds were increased nuchal translucency at 10-12 weeks of gestation (50 %), feet abnormalities (clubfeet or metatarsus varus) (25 %), dislocation affecting at least one large joint (elbow, knee, wrist) (25 %). Bilateral bowing of femora was noted for two fetuses. Fibular hypertrophy was noted for one fetus. Prenatal helical computed tomography (CT) performed in three pregnancies showed additional data such as bowing of the forearm bones, proximal radio-ulnar synostosis, or dislocation of large joints. Prenatal sonographic and helical CT findings led to the prenatal diagnosis of LRS in four patients. We confirm that the neonatal clinical picture of LRS has an important overlap with that reported in patients with B4GALT7 deficiency outside La Réunion Island and other linkeropathies. The core of the phenotypic spectrum combines low birth height, micromelia, hypermobility, dislocation of at least one large joint, facial features with prominent eyes, microstomia, depressed nasal bridge, and midface hypoplasia. Other clinical features include clubfeet (33%), bifid thumb in one patient, and cardiac abnormalities in two patients. Radiological findings include radio-ulnar synostosis (75%), metaphyseal flaring, precocious carpal ossification, and a Swedish key appearance of the proximal femora. Finally, we also report radiological features rarely described in B4GALT7-linkeropathies, including bowing of the femora and fibular hypertrophy. Our results confirm the phenotypic continuum of LRS within linkeropathies with some additional findings, including a high frequency of clubfeet usually described in B3GALT6-linkeropathies, the presence of congenital heart diseases usually described in B3GAT3-linkeropathies, and a high frequency of metaphyseal flaring usually reported in B3GALT6 or XITLT1-linkeropathies. This is the first study that describes the perinatal phenotype in a cohort of patients with LRS. This study can help improve the prenatal diagnosis of the linkeropathies and add this group of conditions to the differential diagnosis of chondrodysplasias with multiple dislocations. In view of the founder effect for LRS in La Réunion Island, this disease should be suspected in fetuses with growth restriction and micromelia. Thus in case of LOH which include B4GALT7 identified in SNP-array, we recommend performing a targeted Sanger sequencing for the recurrent mutation c.808C > T; p. (Arg270Cys).
Topics: Humans; Phenotype; Female; Osteochondrodysplasias; Male; Galactosyltransferases; Infant, Newborn; Pregnancy
PubMed: 38705458
DOI: 10.1016/j.ejmg.2024.104940 -
Brazilian Journal of Anesthesiology... 2023Patients with burns to the head and neck may be difficult to intubate or ventilate via facemask. Furthermore, post-burn scarring and microstomia may reduce the success...
Patients with burns to the head and neck may be difficult to intubate or ventilate via facemask. Furthermore, post-burn scarring and microstomia may reduce the success of rescue supraglottic airway placement. While awake tracheal intubation using a flexible intubation scope is considered the optimal technique for these patients, it may not always be feasible in the pediatric population. We report a case of successful management of a difficult airway in a child with extensive post-burn head and neck deformity using a noninvasive positive pressure system to aid with inhalational induction and deep sedation during intubation using a flexible scope.
PubMed: 33887337
DOI: 10.1016/j.bjane.2021.03.012 -
Molecular Genetics & Genomic Medicine Apr 2024Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear... (Review)
Review
BACKGROUND
Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear malformation at the junction between the lobe and helix, micromaxillary malformation, and mandibular condylar hypoplasia. Four subtypes of ARCND have been described so far, that is, ARCND1 (OMIM # 602483), ARCND2 (ARCND2A, OMIM # 614669; ARCND2B, OMIM # 620458), ARCND3 (OMIM # 615706), and ARCND4 (OMIM # 620457).
METHODS
This study reports a case of ARCND2 resulting from a novel pathogenic variant in the PLCB4 gene, and summarizes PLCB4 gene mutation sites and phenotypes of ARCND2.
RESULTS
The proband, a 5-day-old male neonate, was referred to our hospital for respiratory distress. Micrognathia, microstomia, distinctive question mark ears, as well as mandibular condyle hypoplasia were identified. Trio-based whole-exome sequencing identified a novel missense variant of NM_001377142.1:c.1928C>T (NP_001364071.1:p.Ser643Phe) in the PLCB4 gene, which was predicted to impair the local structural stability with a result that the protein function might be affected. From a review of the literature, only 36 patients with PLCB4 gene mutations were retrieved.
CONCLUSION
As with other studies examining familial cases of ARCND2, incomplete penetrance and variable expressivity were observed within different families' heterozygous mutations in PLCB4 gene. Although, motor and intellectual development are in the normal range in the vast majority of patients with ARCND2, long-term follow-up and assessment are still required.
Topics: Humans; Infant, Newborn; Male; China; Ear; Ear Diseases; Micrognathism; Phospholipase C beta; East Asian People
PubMed: 38618928
DOI: 10.1002/mgg3.2441