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Paediatric Respiratory Reviews Feb 2020A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fusion of the posterior cricoid lamina,... (Review)
Review
A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fusion of the posterior cricoid lamina, which affects an abnormal communication between the larynx, trachea and esophagus. The genetic etiology of LC remains elusive. The involvement of genetic factors in the development of LC is suggested by reports of familial occurrence, and the increased prevalence of component features among first-degree relatives of affected individuals and murine knockout models. No consistent pattern of inheritance has been found in nonsyndromic patients, except for cases associated with described syndromes. Once the syndrome related to the laryngeal cleft is considered, an active search for the cleft must be initiated. The genetic evaluation of patients with LCs should be guided by the type and location of the malformation, specific medical history and a detailed physical examination. The application of genetic approaches, such as microarrays and exome sequencing might lead to elucidating the etiology of LCs.
Topics: Anal Canal; Arthrogryposis; CHARGE Syndrome; Congenital Abnormalities; Craniofacial Abnormalities; DiGeorge Syndrome; Ear; Ear Diseases; Esophagus; Heart Defects, Congenital; Humans; Hypertelorism; Hypopituitarism; Hypospadias; Intellectual Disability; Kidney; Larynx; Limb Deformities, Congenital; Pallister-Hall Syndrome; Spine; Trachea
PubMed: 31734186
DOI: 10.1016/j.prrv.2019.09.004 -
BMC Musculoskeletal Disorders Feb 2022Radial Polydactyly Type IV-D deformity is difficult to treat because of the most complex bone and soft tissue anomalies. Resection and reconstruction for one of the two...
BACKGROUND
Radial Polydactyly Type IV-D deformity is difficult to treat because of the most complex bone and soft tissue anomalies. Resection and reconstruction for one of the two thumbs was an option for treatment.
OBJECTIVE
The study was to present our method of resection and reconstruction with a new incision for radial polydactyly Type IV-D and evaluate the clinical efficacy comprehensively using Rotterdam assessment system in a large sample.
METHODS
206 cases of type IV-D thumb duplication underwent resection and reconstruction surgical treatment between 2010 and 2019. Two equal triangle flap incisions were designed around the radial thumb. The radial thumb was resected and the ulnar thumb was reconstructed in aspects of bone, tendons, ligaments and abductor pollicis brevis. The clinical results were evaluated using Rotterdam assessment system.
RESULTS
The mean follow-up period was 2.2 years (SD 1.5). The mean age of the patients was 9 months (SD 1.8) at the time of operation. The mean ranges of active IP and MP joint flexion and extension were 110° and 26°. The mean angulations for IP and MP joint instabilities were 3° and 11°, relatively. Angulation for palmar abduction was 58°. The mean appearance domain score was 8.9. The average parental satisfaction score was 2.5 and the average patient-reported pain score was 2.1. The mean functional domain score for all patients was 6.6. The average appearance domain score was 8.9. The mean patient-reported domain score was 4.5. The mean Rotterdam outcome score was 20.0, equivalent to 67% of the full score. The postoperative score of patients over two years old was significantly lower than that of patients under two years old.
CONCLUSION
Resection and reconstruction method with two equal triangle flap incisions was a recommended treatment for radial polydactyly Type IV-D.
LEVEL OF EVIDENCE
IV.
Topics: Child, Preschool; Humans; Infant; Metacarpophalangeal Joint; Polydactyly; Plastic Surgery Procedures; Retrospective Studies; Thumb
PubMed: 35193542
DOI: 10.1186/s12891-022-05119-w -
Genes Apr 2023Polydactyly is a rare autosomal dominant or recessive appendicular patterning defect of the hands and feet, phenotypically characterized by the duplication of digits....
Polydactyly is a rare autosomal dominant or recessive appendicular patterning defect of the hands and feet, phenotypically characterized by the duplication of digits. Postaxial polydactyly (PAP) is the most common form and includes two main types: PAP type A (PAPA) and PAP type B (PAPB). Type A involves a well-established extra digit articulated with the fifth or sixth metacarpal, while type B presents a rudimentary or poorly developed superfluous digit. Pathogenic variants in several genes have been identified in isolated and syndromic forms of polydactyly. The current study presents two Pakistani families with autosomal recessive PAPA with intra- and inter-familial phenotype variability. Whole-exome sequencing and Sanger analysis revealed a novel missense variant in (c.3572C>T: p.Pro1191Leu) in family A and a known nonsense variant in (c.337C>T: p.Arg113*) in family B. In silico studies of mutant KIAA0825 and GLI1 proteins revealed considerable structural and interactional modifications that suggest an abnormal function of the proteins leading to the disease phenotype. The present study broadens the mutational spectrum of and demonstrates the second case of a previously identified variant with variable phenotypes. These findings facilitate genetic counseling in Pakistani families with a polydactyly-related phenotype.
Topics: Humans; Zinc Finger Protein GLI1; Polydactyly; Fingers; Mutation
PubMed: 37107627
DOI: 10.3390/genes14040869 -
Advances in Skin & Wound Care Jun 2024In the literature, there is no consensus regarding the surgical management of postaxial polydactyly, and few cases of polymetatarsia with polydactyly have been reported.... (Review)
Review
BACKGROUND
In the literature, there is no consensus regarding the surgical management of postaxial polydactyly, and few cases of polymetatarsia with polydactyly have been reported. Treatment of the complete deformity will prevent further foot and gait disorders.
OBJECTIVE
To identify literature relevant to the operative management of Y-shaped metatarsal with biphalangeal sixth toe and related skin and wound care to improve surgical treatment protocols from a clinical experience perspective.
DATA SOURCES
The authors searched several electronic databases in December 2022 for articles related to postaxial polysyndactyly in the feet and polymetatarsia. Databases searched included PubMed, SciELO, ScienceDirect, Cochrane Database of Systematic Reviews, and Google Scholar gray literature.
STUDY SELECTION
Two independent researchers conducted the searches and read the article titles and abstracts. Studies were included if they were narrative reviews, case studies, or observational studies; written in English or Spanish; and published between 2012 and 2022. Nonhuman studies were excluded. Studies that met the inclusion criteria were fully evaluated. Disagreements between reviewers were resolved by consensus, and when there was no consensus, a senior researcher was consulted.
DATA EXTRACTION
The following data were extracted from the included studies using a standardized form: author and year of publication, study type, number of participants, sex, polydactyly location, polymetatarsia, type of polydactyly, participants' history of hereditary associated diseases or malformations, treatment, removal criteria, and timing of surgery.
DATA SYNTHESIS
Authors evaluated 11 studies of postaxial polydactyly that included a total of 153 participants (64 men, 89 women). They also document their clinical experience with a surgical technique used in cases of bilateral postaxial polydactyly of the foot with a Y-shaped metatarsal with biphalangeal sixth toe.
CONCLUSIONS
Surgical correction with lateral removal of the sixth toe is a resolutive treatment to improve the functionality of the foot, its aesthetic appearance, and the patient's quality of life. Case-specific treatment should be applied and tailored to meet the individual needs. The biomechanics of gait and shoe problems in these patients improve with surgical treatment, without presenting secondary aesthetic problems in skin care.
Topics: Humans; Metatarsal Bones; Polydactyly; Toes; Female; Male; Fingers
PubMed: 38767428
DOI: 10.1097/ASW.0000000000000148 -
American Journal of Medical Genetics.... Jun 2021The Moche were a pre-Hispanic, pre-Incan people who inhabited northwestern Peru from 50 to 850 AD and left behind a large body of ceramic artwork. We present 26 pieces...
The Moche were a pre-Hispanic, pre-Incan people who inhabited northwestern Peru from 50 to 850 AD and left behind a large body of ceramic artwork. We present 26 pieces from 5 museums, which seem to show individuals with malformations, minor anomalies, and possible genetic syndromes. Possible diagnoses include cleft lip and palate, ocular anomalies such as hypertelorism and orbital dystopia, oligo- and polydactyly, conjoined twinning, clubfoot, Down syndrome, Crouzon syndrome, and Seckel syndrome. These ceramic portraits suggest that these people with received a certain respect or even elevated status within their society.
Topics: Cleft Lip; Cleft Palate; Down Syndrome; Eye Abnormalities; Hispanic or Latino; Humans
PubMed: 33982859
DOI: 10.1002/ajmg.c.31904 -
Journal of Multidisciplinary Healthcare 2022Bardet - Biedl syndrome is a rare autosomal recessive multisystem non-motile ciliopathy. It has heterogeneous clinical manifestations. It is caused by mutations in 26... (Review)
Review
Bardet - Biedl syndrome is a rare autosomal recessive multisystem non-motile ciliopathy. It has heterogeneous clinical manifestations. It is caused by mutations in 26 genes encoding BBSome proteins, chaperonines, and IFT complex. The main clinical features are: retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary anomalies, and kidney disease. The onset of clinical manifestations is variable which makes the diagnosis difficult in some patients. Because of the multiple system involvement, a multidisciplinary approach is necessary. The purpose of this review is to provide monitoring and management directions for a better approach to these patients.
PubMed: 36193191
DOI: 10.2147/JMDH.S274739 -
Clinical Genetics Jan 2024Skeletal ciliopathies are a heterogenous group of congenital disorders characterized by multiple internal abnormalities, and distinct radiographic presentation....
Skeletal ciliopathies are a heterogenous group of congenital disorders characterized by multiple internal abnormalities, and distinct radiographic presentation. Pathogenic variants in at least 30 cilia genes are known to cause skeletal ciliopathies. Here we report a fetus with an atypical skeletal ciliopathy phenotype and compound heterozygous variants in the RAB34 gene. The affected fetus had multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly. Genome sequencing identified compound heterozygous variants in the RAB34 gene: maternal c.254T>C, p.(Ile85Thr), and paternal c.691C>T, p.(Arg231*) variants. Only the paternal variant was present in the unaffected sibling. Evidence in the literature indicated that Rab34 mice displayed a ciliopathy phenotype with cleft palate and polydactyly. These features were consistent with malformations detected in our patient supporting the pathogenicity of the identified RAB34 variants. Overall, this case report further expands genetic landscape of human ciliopathy syndromes and suggests RAB34 as a candidate gene for skeletal ciliopathies.
Topics: Humans; Animals; Mice; Cleft Lip; Cleft Palate; Ciliopathies; Polydactyly; Abnormalities, Multiple; Syndrome; rab GTP-Binding Proteins
PubMed: 37619988
DOI: 10.1111/cge.14419 -
Annals of Translational Medicine Aug 2021Few studies have investigated families in which multiple individuals over three or more generations are affected by radial polydactyly and syndactyly. This report...
BACKGROUND
Few studies have investigated families in which multiple individuals over three or more generations are affected by radial polydactyly and syndactyly. This report describes an extremely rare family in which nine individuals across six generations were affected by complex radial polydactyly.
METHODS
We investigated a six-generation pedigree with radial polydactyly including triplication, triphalangism, hypoplasia, and symphalangism. There was a total of 34 individuals (including their spouses) in the family and 11 individuals had polydactyly. The average age of the patients ranged from 7 months to 96 years. The characteristic feature of the malformation in these patients was described. Two patients underwent surgical resection for radial supernumerary thumbs. The Bilhout-Cloquet technique and On-top-plasty technique were used to reconstruct the nail and the joints.
RESULTS
The patients in this family presented with thumb duplication and triphalangism in both hands, including a variety of deformities, such as triplication, triphalangism, hypoplasia, and symphalangism. Syndactyly and ulnar polydactyly were also frequently observed. Two patients who underwent surgical treatment showed good hand and thumb function at the 8- and 2-year post-operative follow-up, respectively.
CONCLUSIONS
The present study reported various mixed phenotypes including triplication, triphalangism, hypoplasia, and symphalangism within the same family which may represent a rare type of polydactyly. Surgical resection of extra digits to achieve mobility of the thumb is the main treatment option for radial polydactyly. Given the ulnar thumb is better developed, the radial thumb is typically resected in patients with radial polydactyly. These reconstructive principles are fit for this Chinese family as well.
PubMed: 34532433
DOI: 10.21037/atm-21-2773 -
International Journal of Surgery Case... Feb 2022Mirror foot or mirror image duplication of the foot is an extreme form and very rare congenital anomaly. There are limited management recommendations, and most cases are...
BACKGROUND
Mirror foot or mirror image duplication of the foot is an extreme form and very rare congenital anomaly. There are limited management recommendations, and most cases are treated before walking age. We present the clinical findings, surgical treatment, and results of a rare case of mirror foot polydactyly.
CASE PRESENTATION
A five-month-old girl with bilateral mirror foot was referred to our orthopaedic department. She was born full-term by the caesarian section and there was no family history of similar skeletal abnormalities and no history of drug or radiation exposure during gestation. The child had eight toes on the right foot and seven toes on the left with fully developed metatarsal, proximal, middle, and distal phalanges. Radiographs confirmed the diagnosis of mirror foot with a full complement of normal lateral toes and three additional complete rays medial to the right foot and two additional complete rays medial to the left foot. The patient underwent ray resection and concurrent reconstruction of the medial arch of the foot. A medial longitudinal incision was used to excised the right medial three rays and left medial two rays. The target of this surgical intervention was for aesthetic or cosmetic reasons and enabling the patient to allow shoe wear.
CONCLUSION
Mirror-foot abnormalities are distinctly uncommon entities and represent extreme forms of congenital duplication of the preaxial polydactyly spectrum. Treatment on age of five-month-old with medial longitudinal incision had a satisfying clinical and radiological results.
PubMed: 35065400
DOI: 10.1016/j.ijscr.2022.106780 -
Molecular Syndromology Mar 2021Acromelic frontonasal dysostosis (AFND; MIM #603671) is a rare autosomal dominant genetic disorder caused by a heterozygous mutation in the () gene located at...
Acromelic frontonasal dysostosis (AFND; MIM #603671) is a rare autosomal dominant genetic disorder caused by a heterozygous mutation in the () gene located at chromosome 5q12.1. It is phenotypically characterized by frontonasal malformation with hypertelorism, telecanthus, nasal clefting or bifid nasal tip, wide fontanels and sutures, brachycephaly, and cleft palate. The patients also present with central nervous system malformations such as encephalocele, agenesis of the corpus callosum, or interhemispheric lipoma. Limb malformations can also be found, including preaxial polydactyly of the feet and sometimes postaxial polydactyly of the hands, talipes equinovarus, or tibia malformations. Here, we present a case of early prenatal diagnosis of AFND with ultrasound and necropsy images which show the phenotypic findings of this syndrome.
PubMed: 33776626
DOI: 10.1159/000512304