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Case Reports in Orthopedics 2022A 70-year-old woman born and raised in India presented with Wassel type IV preaxial polydactyly of the right thumb and difficulty performing daily activities. She...
A 70-year-old woman born and raised in India presented with Wassel type IV preaxial polydactyly of the right thumb and difficulty performing daily activities. She elected for surgical reconstruction after postponing the procedure for many years due to cultural norms. Her postoperative course was unremarkable. At her 3-month follow-up, she was diagnosed with carpal tunnel syndrome and underwent open carpal tunnel release. Preaxial polydactyly repair is unusual in patients older than 25 years. Though the duplication is considered lucky in South Asia, indications for this case were arthritic pain, cosmesis, and function. This case report details a unique indication for polydactyly reconstruction, arthritic pain, which may benefit hand surgeons when discussing the literature on adult polydactyly with their patients.
PubMed: 36092282
DOI: 10.1155/2022/7031401 -
JBJS Reviews Mar 2022Surgical timing for pediatric trigger thumb treatment is controversial for numerous reasons including the potential for spontaneous resolution, the possibility of...
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Surgical timing for pediatric trigger thumb treatment is controversial for numerous reasons including the potential for spontaneous resolution, the possibility of bilateral involvement, and anesthesia concerns regarding the developing brain. Hence, a reasonable approach is to delay the surgical procedure until the patient is ≥3 years of age.
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Preaxial polydactyly is usually unilateral and sporadic, with the most common reconstruction method consisting of excision of the diminutive thumb with preservation and soft-tissue reconstruction of the dominant thumb. The surgical procedure is typically performed around the patient age of 1 year to decrease the risks of anesthesia but allow reconstruction prior to the development of a tip-to-tip pinch.
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Triphalangeal thumb and thumb hypoplasia are often found in the setting of systemic anomalies such as Holt-Oram syndrome, thrombocytopenia absent radius syndrome, Fanconi anemia, VACTERL (vertebral anomalies, anal atresia, cardiac anomalies, tracheoesophageal fistula, renal defects, and limb anomalies), and/or Blackfan-Diamond anemia. As such, patients should receive adequate workup for these entities. A surgical procedure should be performed only once patients have been medically cleared.
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The status of the carpometacarpal joint in thumb hypoplasia determines whether reconstruction with first web space deepening, collateral ligament stabilization, and opponensplasty compared with index pollicization is performed.
Topics: Child; Hand Deformities; Hand Deformities, Congenital; Humans; Polydactyly; Thumb; Upper Extremity Deformities, Congenital
PubMed: 35230999
DOI: 10.2106/JBJS.RVW.21.00147 -
Archives of Gynecology and Obstetrics Jul 2022Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. (Observational Study)
Observational Study
PURPOSE
Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020.
METHODS
Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes.
RESULTS
36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syndrome (BBS, n = 2/36, 5.5%) and Joubert syndrome (n = 1/36, 2.8%). All cases showed abnormalities of the kidneys, most often hyperechogenic parenchyma (n = 26/36, 72.2%), cystic dysplasia (n = 24/36, 66.7%), and/or bilateral kidney enlargement (n = 22/36, 61.1%). Oligohydramnios was mainly present in fetuses with MKS. Polydactyly (n = 18/36), abnormalities of the CNS (n = 25/36), and heart defects (n = 10/36) were associated in 50%, 69.4%, and 27.8%, respectively.
CONCLUSION
Prenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing.
Topics: Ciliary Motility Disorders; Ciliopathies; Encephalocele; Female; Fetus; Humans; Polycystic Kidney Diseases; Polydactyly; Pregnancy; Retinitis Pigmentosa; Retrospective Studies
PubMed: 34596737
DOI: 10.1007/s00404-021-06265-7 -
Molecular Genetics and Genomics : MGG Sep 2022Disorders that result from de-arrangement of growth, development and/or differentiation of the appendages (limbs and digit) are collectively called as inherited...
Disorders that result from de-arrangement of growth, development and/or differentiation of the appendages (limbs and digit) are collectively called as inherited abnormalities of human appendicular skeleton. The bones of appendicular skeleton have central role in locomotion and movement. The different types of appendicular skeletal abnormalities are well described in the report of "Nosology and Classification of Genetic skeletal disorders: 2019 Revision". In the current article, we intend to present the embryology, developmental pathways, disorders and the molecular genetics of the appendicular skeletal malformations. We mainly focused on the polydactyly, syndactyly, brachydactyly, split-hand-foot malformation and clubfoot disorders. To our knowledge, only nine genes of polydactyly, five genes of split-hand-foot malformation, nine genes for syndactyly, eight genes for brachydactyly and only single gene for clubfoot have been identified to be involved in disease pathophysiology. The current molecular genetic data will help life sciences researchers working on the rare skeletal disorders. Moreover, the aim of present systematic review is to gather the published knowledge on molecular genetics of appendicular skeleton, which would help in genetic counseling and molecular diagnosis.
Topics: Brachydactyly; Clubfoot; Humans; Limb Deformities, Congenital; Molecular Biology; Polydactyly; Syndactyly
PubMed: 35907958
DOI: 10.1007/s00438-022-01930-1 -
BMC Medical Genomics Dec 2023Short-rib polydactyly syndrome (SRPS) refers to a group of lethal skeletal dysplasias that can be difficult to differentiate between subtypes or from other non-lethal...
BACKGROUND
Short-rib polydactyly syndrome (SRPS) refers to a group of lethal skeletal dysplasias that can be difficult to differentiate between subtypes or from other non-lethal skeletal dysplasias such as Ellis-van Creveld syndrome and Jeune syndrome in a prenatal setting. We report the ultrasound and genetic findings of four unrelated fetuses with skeletal dysplasias.
METHODS
Systemic prenatal ultrasound examination was performed in the second or third trimester. Genetic tests including GTG-banding, single nucleotide polymorphism (SNP) array and exome sequencing were performed with amniocytes or aborted fetal tissues.
RESULTS
The major and common ultrasound anomalies for the four unrelated fetuses included short long bones of the limbs and narrow thorax. No chromosomal abnormalities and pathogenic copy number variations were detected. Exome sequencing revealed three novel variants in the DYNC2H1 gene, namely NM_001080463.2:c.6809G > A p.(Arg2270Gln), NM_001080463.2:3133C > T p.(Gln1045Ter), and NM_001080463.2:c.337C > T p.(Arg113Trp); one novel variant in the IFT172 gene, NM_015662.3:4540-5 T > A; and one novel variant in the WDR19 gene, NM_025132.4:c.2596G > C p.(Gly866Arg). The genotypes of DYNC2H1, IFT172 and WDR19 and the phenotypes of the fetuses give hints for the diagnosis of short-rib thoracic dysplasia (SRTD) with or without polydactyly 3, 10, and 5, respectively.
CONCLUSION
Our findings expand the mutation spectrum of DYNC2H1, IFT172 and WDR19 associated with skeletal ciliopathies, and provide useful information for prenatal diagnosis and genetic counseling on rare skeletal disorders.
Topics: Pregnancy; Female; Humans; DNA Copy Number Variations; Ellis-Van Creveld Syndrome; Prenatal Diagnosis; Osteochondrodysplasias; Polydactyly; Ciliopathies; Cytoskeletal Proteins; Adaptor Proteins, Signal Transducing
PubMed: 38062428
DOI: 10.1186/s12920-023-01753-y -
Indian Journal of Pediatrics Jan 2023Desbuquois dysplasia (DBQD) is an uncommon, autosomal recessive disorder with multiple joint dislocations. It is caused by pathogenic variants in CANT1...
Desbuquois dysplasia (DBQD) is an uncommon, autosomal recessive disorder with multiple joint dislocations. It is caused by pathogenic variants in CANT1 (calcium-activated nucleotidase 1) [NM_001159773.2]. This study adds to the scant data of nine reported antenatal phenotypes of DBQD. The present paper describes two unrelated consanguineous families with antenatal features of lethal skeletal dysplasia. The defining radiological changes were identified in only one patient who presented in the late second and third trimesters. Solo exome sequencing was performed and two previously reported homozygous variants c.896C>T (p.Pro299Leu) in patient 1 and c.902_906dup (p.Ser303fs*20) in patient 2 were identified. This study highlights the fetal presentations in DBQD and adds to its phenotypic spectrum. A complete clinical workup, including fetal autopsy and radiographs is essential to confirm the diagnosis of lethal skeletal dysplasia. Molecular diagnosis remains the diagnostic modality to define the causative variant. A definitive diagnosis is essential to inform management and offer reproductive care.
Topics: Female; Pregnancy; Humans; Mutation; Dwarfism; Polydactyly; Phenotype; Osteochondrodysplasias
PubMed: 36331722
DOI: 10.1007/s12098-022-04386-8 -
Cureus Aug 2020Polymetatarsia is an atavistic anomaly characterised by one or more additional metatarsals. Usually found with a supernumerary digit (polydactyly), polymetatarsia...
Polymetatarsia is an atavistic anomaly characterised by one or more additional metatarsals. Usually found with a supernumerary digit (polydactyly), polymetatarsia without polydactyly is a rare variant. We report a case of a 34-year-old male with polymetatarsia within the first intermetatarsal spaces of both feet without polydactyly. Clinically, moderate dorsal spur formation was visible, and compressive pain from ankylosed additional metatarsals within the first intermetatarsal spaces was exhibited. Treatment involved resection of his additional metatarsals with concomitant correction of his hallux valgus deformities and bilateral second brachymetatarsia. He reported a reduction in pressure and pain that was maintained until his discharge appointment at six weeks postoperatively. Resection of additional metatarsals may provide effective pain relief in symptomatic patients.
PubMed: 32944449
DOI: 10.7759/cureus.9730 -
Cureus Oct 2023Laurence-Moon-Bardet Biedl syndrome (LMBBS) is a rare autosomal recessive genetic disorder that is most frequently found in children born from consanguineous marriages....
Laurence-Moon-Bardet Biedl syndrome (LMBBS) is a rare autosomal recessive genetic disorder that is most frequently found in children born from consanguineous marriages. The most prominent clinical characteristics of this syndrome include rod and cone dystrophy, nystagmus, central obesity, polydactyly, hypogonadism in males, renal anomalies, developmental delay, ataxia, speech difficulties, and poor coordination. In this report, we describe the case of a 31-year-old male who had the classical clinical features of LMBBS like developmental delay, retinitis pigmentosa, nystagmus, obesity, hypogonadism, and central obesity, presenting with abdominal pain associated with vomiting and tenderness in the right lower quadrant. The patient was diagnosed with cholelithiasis. This case report emphasizes the atypical complication of cholelithiasis due to the underlying syndrome and the need for further research in this area.
PubMed: 38021809
DOI: 10.7759/cureus.47316 -
JPRAS Open Jun 2022Polydactyly is characterized by the manifestation of supernumerary digits in the hands and feet. It can be isolated or associated with a genetic syndrome. Based on the...
Polydactyly is characterized by the manifestation of supernumerary digits in the hands and feet. It can be isolated or associated with a genetic syndrome. Based on the location of duplication, it is categorized as preaxial, postaxial, or central. The latter is a rare abnormality, comprising approximately 6% of cases. There is a paucity in the literature regarding this congenital anomaly and its overall management. Nonoperative treatment is generally unsuccessful in managing symptoms such as excessive width, abnormal digit alignment, and growth. Though surgical management addresses the individual patient's needs, general goals include preservation of digits with the greatest axial alignment, resection of symptomatic digits, alignment correction of the remaining great toe, stabilization of the soft tissues, and adequate soft tissue coverage. This study aims to delineate effective operative techniques for central foot polydactyly. Two patient cases are discussed, providing a framework for pre and postoperative care, complications, and outcomes. The techniques detailed offer a straightforward, efficacious, and safe method to reconstruct central foot polydactyly, returning form and function to the patient.
PubMed: 35330745
DOI: 10.1016/j.jpra.2022.01.006 -
JPRAS Open Dec 2023Thumb triplication is a very rare pattern of radial polydactyly that presents as a more complicated form of thumb. Because of its morphological complexity, treatment...
Thumb triplication is a very rare pattern of radial polydactyly that presents as a more complicated form of thumb. Because of its morphological complexity, treatment often requires surgical ingenuity in addition to the conventional surgical treatment algorithms for duplication. We report the case of thumb triplication on the right hand of a 17-month-old boy. We performed on-top-plasty of the ulnar thumb over the intermediate thumb, and achieved a functional and aesthetic thumb. The technique of on-top-plasty is effective for finger reconstruction that maximizes the use of limited tissue and is widely used for treating hand trauma and congenital hand anomalies. In the present case, on-top-plasty contributed most effectively to creating a sufficiently sized thumb, achieving interphalangeal optimization by joining the extra middle phalanx with the proximal phalanx, and securing the first web space by moving the ulnar thumb laterally.
PubMed: 37675276
DOI: 10.1016/j.jpra.2023.08.007