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The Cleft Palate-craniofacial Journal :... Jul 2023Congenital clefts of the maxillofacial area still remain of current interest in reconstructive facial surgery. While their frequency grows up, the issues of effective...
Congenital clefts of the maxillofacial area still remain of current interest in reconstructive facial surgery. While their frequency grows up, the issues of effective surgical primary and secondary interventions are not completely solved yet. The article presents the main problems associated with the elimination of the deformations and our modifications of methods for their correction. The study was conducted based on the Centre [2] and the University [1], Russian Federation. The project was carried out within the framework of the state assignment of the Ministry of Science and Higher Education of the Russian Federation, mnemocode 0669-2020-0008. The research is based on the results of complex treatment of 112 patients with unilateral clefts of the upper lip and palate from the age of 5 to 34 years, 68 patients of them also carried out secondary surgeries. The methods of performing rhinocheiloplasty by moving a "sliding" flap, of eliminating a ctenoid plica appearing after primary surgeries are presented, described, explained, and substantiated in the article. The proposed methods gave a good or satisfactory result in 92.8% of the operated patients, which allows them to be considered effective for eliminating congenital and postoperative nasal deformities in patients with facial clefts. The surgical methods of eliminating congenital and postoperative deformities of the nose in patients with facial clefts should be modified in accordance with the nature of the most frequently arising shortcomings of the surgical stages of correction.
Topics: Humans; Child, Preschool; Child; Adolescent; Young Adult; Adult; Cleft Lip; Plastic Surgery Procedures; Nose; Rhinoplasty; Cleft Palate
PubMed: 35769046
DOI: 10.1177/10556656221099816 -
The Journal of Hand Surgery Oct 2020Macrodactyly is a rare, nonhereditary congenital deformity. Digital enlargement in macrodactyly involves all tissue types and presents alone or as part of a congenital...
PURPOSE
Macrodactyly is a rare, nonhereditary congenital deformity. Digital enlargement in macrodactyly involves all tissue types and presents alone or as part of a congenital deformity syndromes. Macrodactyly treatment largely depends on surgeons' experience and knowledge. Because there is a paucity of large cohort studies of macrodactyly in the literature, our goal was to retrospectively analyze macrodactyly cases in order to define a better system for diagnosis, classification, and prognosis.
METHODS
Medical records of 90 Chinese macrodactyly patients, including demographic characteristics, clinical presentations, anatomical distributions, x-rays, pathological findings, and treatments, were reviewed. Genetic analyses of 12 patients were also reviewed.
RESULTS
Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 2.6 times more frequent than single-digit involvement. The index finger, middle finger, and thumb were most commonly involved. Two digits were affected more often than 3, with the affected digits adjacent in most cases. The affected digit was in the median nerve innervation distribution in 79% of cases and was accompanied by enlargement and fat infiltration of the median nerve. Seven cases had syndactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive.
CONCLUSIONS
Macrodactyly represents a heterogeneous group of conditions, without significant sex or geographical predilection, which is usually present at birth. A high PIK3CA mutation-positive rate in affected tissues suggests a similar cellular mechanism for overgrowth in patients with various clinical presentations.
TYPE OF STUDY/LEVEL OF EVIDENCE
Prognostic IV.
Topics: Fingers; Humans; Infant, Newborn; Limb Deformities, Congenital; Retrospective Studies; Syndactyly
PubMed: 32299688
DOI: 10.1016/j.jhsa.2020.03.002 -
Clinical Dysmorphology Jul 2022Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror... (Review)
Review
INTRODUCTION
Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella) often associated with ulnar and/or fibular duplication. As a pathologic entity, it is heterogeneous, the patients displaying a variety of symptoms. This review aims to analyze the different aspects of the condition, such as clinical findings and methods of treatment to summarize the principal features of Laurin-Sandrow syndrome.
MATERIALS AND METHODS
The review is based on searches on PubMed, Web of Science and Researchgate of the following terms: "Laurin-Sandrow syndrome", "mirror hands", "mirror feet", "tetramelic mirror-image polydactyly", "fibular dimelia" and "ulnar dimelia". Clinical cases, reviews and original articles were included.
RESULTS
As a consequence of our findings, we suggest a modification of the Al-Qattan classification system for Mirror Hand-Multiple Hand Spectrum.
CONCLUSION
Even though it has an extremely low incidence, a thorough understanding of the syndrome enables the surgeon to choose the appropriate treatment with the ultimate goal to improve the patient's life quality.
Topics: Abnormalities, Multiple; Ectromelia; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Nose; Polydactyly
PubMed: 35256564
DOI: 10.1097/MCD.0000000000000420 -
The Indian Journal of Medical Research Jan 2016Parkinson`s disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the... (Review)
Review
Parkinson`s disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the patients. Patients with PD may have stooped posture but some of them develop different types of postural and striatal deformities. Usually these deformities are more common in atypical parkinsonian disorders such as progressive supranuclear palsy and multisystem atrophy. But in many studies it has been highlighted that these may also be present in approximately one third of PD patients leading to severe disability. These include antecollis or dropped head, camptocormia, p0 isa syndrome, scoliosis, striatal hands and striatal toes. The pathogenesis of these deformities is a complex combination of central and peripheral influences such as rigidity, dystonia and degenerative skeletal changes. Duration of parkinsonism symptoms is an important risk factor and in majority of the patients these deformities are seen in advanced statge of the disease. The patients with such symptoms may initially respond to dopaminergic medications but if not intervened they may become fixed and difficult to treat. Pain and restriction of movement are most common clinical manifestations and these may mimick symptoms of musculoskeletal disorders like rheumatoid arthritis. Early diagnosis is important as the patients may respond to adjustment in dopaminergic medications. Recent advances such as deep brain stimulation (DBS) and ultrasound guided botulinum toxin injection are helpful in management of these deformities in patients with PD.
Topics: Brain; Congenital Abnormalities; Corpus Striatum; Humans; Parkinson Disease; Posture
PubMed: 26997007
DOI: 10.4103/0971-5916.178577 -
JPMA. the Journal of the Pakistan... Apr 2023Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormalities, that manifests with abnormal features,...
Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormalities, that manifests with abnormal features, causes repeated infections and is associated with developmental delays. Here, we report a newborn male with CSS from Baoding in the Hebei Province of China.
Topics: Infant, Newborn; Humans; Male; Intellectual Disability; Abnormalities, Multiple; Micrognathism; Hand Deformities, Congenital; Neck
PubMed: 37052010
DOI: 10.47391/JPMA.5157 -
Journal of Plastic, Reconstructive &... Oct 2021This study aimed to investigate the factors associated with congenital auricular deformities and evaluate the long-term frequency of their self-correction. Ninety...
This study aimed to investigate the factors associated with congenital auricular deformities and evaluate the long-term frequency of their self-correction. Ninety newborns were enrolled in the study, and data were collected within 2 weeks after birth and at 1 year. The shape of the auricle was classified into seven categories using a digital image. At 2 weeks after birth, several birth-related factors were evaluated in the auricular deformity and normal groups. At 1 year after birth, the images of auricles were compared with the images at birth, and the changes in the auricle shape were investigated. Congenital auricular deformities were observed in 139 out of 180 ears, and the major type noted was helix rim deformity (47 ears), followed by normal ears (41 ears), and cup ears (33 ears). Male sex was found to have a statistically significant association with the occurrence of auricular deformity. In the longitudinal study, among 43 neonates (86 ears) followed-up 12 months later, the self-correction rate was approximately 50%. The normal auricle and prominent ear increased, helix rim deformity and cup ear decreased significantly. The prognosis of deformity varied depending on the type of deformity. Considering the low self-correction rate in the prominent and cup ears, newborns with these deformities might be recommended to undergo management such as auricle molding technique, as required.
Topics: Congenital Abnormalities; Ear Auricle; Female; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Remission, Spontaneous; Sex Factors
PubMed: 33972198
DOI: 10.1016/j.bjps.2021.03.023 -
The Journal of Hand Surgery, European... Jan 2019Cleft hand or split hand foot malformation is a sequence of phenotypes, from a minor shortening of the central digit to a complete absence of the third ray and in the... (Review)
Review
Cleft hand or split hand foot malformation is a sequence of phenotypes, from a minor shortening of the central digit to a complete absence of the third ray and in the most severe cases, absence of two, three or four rays. It is a rare but spectacular presentation usually involving both hands and feet. Inheritance is mostly autosomal dominant but sporadic cases without family history are also reported, resulting from a de novo mutation/deletion/duplication. Intra-familial clinical variability is the rule, with incomplete penetrance. X-linked or autosomal recessive inheritance has also been described. To date, seven subgroups of split hand foot malformation have been identified and seven loci are currently known. Anatomical records have enhanced our knowledge of this group of disorders of the hands and feet and allowed us to improve surgical procedures and long-term outcome.
Topics: Humans; Limb Deformities, Congenital; Muscle, Skeletal; Orthopedic Procedures; Tendons
PubMed: 30380990
DOI: 10.1177/1753193418807375 -
Developmental Dynamics : An Official... Nov 2015We introduce a new subfield of the recently created field of Evolutionary-Developmental-Anthropology (Evo-Devo-Anth):... (Review)
Review
Evolutionary developmental pathology and anthropology: A new field linking development, comparative anatomy, human evolution, morphological variations and defects, and medicine.
We introduce a new subfield of the recently created field of Evolutionary-Developmental-Anthropology (Evo-Devo-Anth): Evolutionary-Developmental-Pathology-and-Anthropology (Evo-Devo-P'Anth). This subfield combines experimental and developmental studies of nonhuman model organisms, biological anthropology, chordate comparative anatomy and evolution, and the study of normal and pathological human development. Instead of focusing on other organisms to try to better understand human development, evolution, anatomy, and pathology, it places humans as the central case study, i.e., as truly model organism themselves. We summarize the results of our recent Evo-Devo-P'Anth studies and discuss long-standing questions in each of the broader biological fields combined in this subfield, paying special attention to the links between: (1) Human anomalies and variations, nonpentadactyly, homeotic transformations, and "nearest neighbor" vs. "find and seek" muscle-skeleton associations in limb+facial muscles vs. other head muscles; (2) Developmental constraints, the notion of "phylotypic stage," internalism vs. externalism, and the "logic of monsters" vs. "lack of homeostasis" views about human birth defects; (3) Human evolution, reversions, atavisms, paedomorphosis, and peromorphosis; (4) Scala naturae, Haeckelian recapitulation, von Baer's laws, and parallelism between phylogeny and development, here formally defined as "Phylo-Devo parallelism"; and (5) Patau, Edwards, and Down syndrome (trisomies 13, 18, 21), atavisms, apoptosis, heart malformations, and medical implications.
Topics: Anatomy; Anatomy, Comparative; Animals; Anthropology; Biological Evolution; Chromosomes, Human, Pair 18; Congenital Abnormalities; Developmental Biology; Down Syndrome; Foot Deformities, Congenital; Hand Deformities, Congenital; Heart Defects, Congenital; Homeostasis; Humans; Karyotyping; Pathology; Phylogeny; Trisomy; Trisomy 18 Syndrome
PubMed: 26293597
DOI: 10.1002/dvdy.24336 -
European Journal of Human Genetics :... Dec 2017
Topics: Congenital Abnormalities; Consensus Development Conferences as Topic; Europe; History, 20th Century; History, 21st Century; Human Genetics; Humans; Image Interpretation, Computer-Assisted; Societies, Scientific; Workforce
PubMed: 29297884
DOI: 10.1038/ejhg.2017.161 -
International Journal of Dermatology Dec 2014Accessory tragus is a developmental defect involving malformation of part of the external ear. It is a moderately rare congenital condition reported in 1858 by Birkett... (Review)
Review
Accessory tragus is a developmental defect involving malformation of part of the external ear. It is a moderately rare congenital condition reported in 1858 by Birkett for the first time. Histological features of accessory tragus include a thin layer of stratum corneum with a rugated epidermis, presence of eccrine glands, and irregular spatial positioning of vellus hair follicles accompanied by sebaceous glands. Accessory tragus is commonly a limited deformity; however, it can be a sign of associated congenital syndromes. It has been shown to be associated with Goldenhar syndrome, Townes-Brocks syndrome, Treacher-Collins syndrome, VACTERL syndrome, and Wolf-Hirschhron syndrome. Surgical excision, the most common form of management of accessory tragus lesions, typically leads to a positive outcome. An extensive search was performed using pubmed.gov, Embase, MedLine, and Googlescholar.com using key words: accessory tragus, congenital malformations of ear, first branchial arch, and embryology. In this paper, we review the clinical and histological presentation, associated syndromes, management, and outcome of accessory tragus.
Topics: Abnormalities, Multiple; Anal Canal; Anus, Imperforate; Congenital Abnormalities; Ear Cartilage; Esophagus; Goldenhar Syndrome; Hearing Loss, Sensorineural; Heart Defects, Congenital; Humans; Kidney; Limb Deformities, Congenital; Mandibulofacial Dysostosis; Spine; Thumb; Trachea; Wolf-Hirschhorn Syndrome
PubMed: 25266223
DOI: 10.1111/ijd.12369