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European Journal of Human Genetics :... Apr 2023Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to analyze 25 molecularly...
Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to analyze 25 molecularly unsolved families with different SCs. Deleterious DYNC2H1 variants were found in six sporadic patients and two monozygotic (MZ) twins. Clinical diagnoses included short rib-polydactyly type 3 in two cases, and asphyxiating thoracic dystrophy (ATD) in one case. Remarkably, clinical diagnosis fitted with EvC, mixed ATD/EvC and short rib-polydactyly/EvC phenotypes in three sporadic patients and the MZ twins. EvC/EvC-like features always occurred in compound heterozygotes sharing a previously unreported splice site change (c.6140-5A>G) or compound heterozygotes for two missense variants. These results expand the DYNC2H1 mutational repertoire and its clinical spectrum, suggesting that EvC may be occasionally caused by DYNC2H1 variants presumably acting as hypomorphic alleles.
Topics: Humans; Ciliopathies; Cytoplasmic Dyneins; Ellis-Van Creveld Syndrome; Mutation; Polydactyly
PubMed: 36599940
DOI: 10.1038/s41431-022-01276-7 -
Current Opinion in Pediatrics Feb 2020The purpose of this review is to describe various forms of hand polydactyly and their different treatment approaches. Hand polydactyly is commonly classified as ulnar... (Review)
Review
PURPOSE OF REVIEW
The purpose of this review is to describe various forms of hand polydactyly and their different treatment approaches. Hand polydactyly is commonly classified as ulnar (small finger) or radial (thumb). Polydactyly can be sporadic, genetic, and/or associated with syndromic conditions.
RECENT FINDINGS
Both ulnar and radial polydactyly can be surgically treated to optimize hand aesthetics and function. Timing of surgery is based on multiple factors, most notably including safety of anesthesia and socialization of the affected child. The pediatrician should be aware of potential associated conditions, such as chondroectodermal dysplasia or Ellis-van Creveld syndrome for ulnar polydactyly.
SUMMARY
Polydactyly is a common congenital hand difference and can be broadly be classified by radial or ulnar involvement. Polydactyly warrants hand surgical referral, as surgical treatment is often indicated. Pediatricians should be aware of treatment options, as well as of commonly associated anomalies and syndromes.
Topics: Child; Fingers; Hand Deformities, Congenital; Humans; Polydactyly; Thumb
PubMed: 31851054
DOI: 10.1097/MOP.0000000000000871 -
Case Reports in Ophthalmological... 2023A rare multisystemic, ciliopathic autosomal recessive disorder called Bardet-Biedl syndrome (BBS) primarily affects children of consanguineous marriages. Both men and...
A rare multisystemic, ciliopathic autosomal recessive disorder called Bardet-Biedl syndrome (BBS) primarily affects children of consanguineous marriages. Both men and women are affected by it. It is characterized by some major and many minor features to aid in the clinical diagnosis and management. Here, we reported two Bangladeshi patients (a 9-year-old girl and 24-year-old male) who were presented with various major and minor features of BBS. Both patients came to us with the symptoms including excessive weight gain, poor vision, and learning disabilities with polydactyly. Our case 1 presented four primary features (retinal degenerations, polydactyly, obesity, and learning deficits) and six secondary features (behavioral abnormality, delayed development, diabetes mellitus, diabetes insipidus, brachydactyly, and LVH), whereas case 2 presented five major criteria (truncal obesity, polydactyly, retinal dystrophy, learning disabilities, and hypogonadism) and six minor criteria (strabismus and cataract, delay in speech, behavioral disorder, developmental delay, brachydactyly and syndactyly, and impaired glucose tolerance test). We diagnosed the cases as BBS. Because there is no specific treatment for BBS, we highlighted the importance of diagnosing it as early as possible so that comprehensive and multidisciplinary care can be offered to prevent avoidable morbidity and mortality.
PubMed: 37096247
DOI: 10.1155/2023/4017010 -
Cureus Apr 2024Polydactyly-myopia syndrome is a rare genetic condition characterized by the co-occurrence of polydactyly and myopia. Herein, we present the case of a 28-year-old Muslim...
Polydactyly-myopia syndrome is a rare genetic condition characterized by the co-occurrence of polydactyly and myopia. Herein, we present the case of a 28-year-old Muslim male, born of consanguineous parents, who presented with complaints of diminished vision since childhood. Ophthalmologic examination revealed severe myopia with characteristic fundus changes indicative of high myopia. Additionally, the patient exhibited polydactyly in all limbs, with a positive family history of both polydactyly and myopia. This case underscores the importance of recognizing and managing rare syndromes to provide appropriate genetic counseling and clinical care. Further research is warranted to elucidate the underlying genetic mechanisms and optimize therapeutic strategies for polydactyly-myopia syndrome. Awareness of this syndrome among healthcare providers is essential to facilitate early diagnosis and intervention for affected individuals and their families.
PubMed: 38745815
DOI: 10.7759/cureus.58235 -
The Journal of Hand Surgery, European... Dec 2023Ulnar dimelia is a very rare unilateral congenital upper limb anomaly (CULA) affecting the whole extremity. Treatment remains difficult because of the complexity and... (Review)
Review
Ulnar dimelia is a very rare unilateral congenital upper limb anomaly (CULA) affecting the whole extremity. Treatment remains difficult because of the complexity and multi-level involvement. Twenty-four cases with duplicated ulna, absent radius and polydactyly from seven European centres were reviewed according to a structured list of parameters. At first consultation, median age 8 months (1-178), the shoulder movement was good in 17 patients or poor in six, and the median passive elbow range of motion was 20° (0°-90°). The resting wrist position was flexed in 22/24 patients. Following stretching and splinting, elbow surgery included resection of the lateral proximal ulna in 11 patients and muscle transfers in six to improve passive movement and increase active elbow motion, respectively. Tendon transfers were performed in eight wrists and a pollicization or pseudo-pollicization in 23 patients. Overall, patients demonstrate acceptable function postoperatively. Guidelines for treatment of this severe CULA are presented. IV.
Topics: Humans; Hand Deformities, Congenital; Ulna; Polydactyly; Wrist Joint; Upper Extremity; Radius
PubMed: 37684016
DOI: 10.1177/17531934231196418 -
American Journal of Medical Genetics.... Sep 2022Pallister-Hall syndrome (PHS) is a rare autosomal dominant disease diagnosed by the presence of hypothalamic hamartoma, mesoaxial polydactyly and a truncating variant in...
Pallister-Hall syndrome (PHS) is a rare autosomal dominant disease diagnosed by the presence of hypothalamic hamartoma, mesoaxial polydactyly and a truncating variant in the middle third of the GLI-Kruppel family member 3 (GLI3) gene. PHS may also include a wide range of clinical phenotypes affecting multiple organ systems including congenital anomalies of the kidney and urinary tract (CAKUT). The observed clinical phenotypes are consistent with the essential role of GLI3, a transcriptional effector in the hedgehog (Hh) signaling pathway, in organogenesis. However, the mechanisms by which truncation of GLI3 in PHS results in such a variety of clinical phenotypes with variable severity, even within the same organ, remain unclear. In this study we focus on presentation of CAKUT in PHS. A systematic analysis of reported PHS patients (n = 78) revealed a prevalence of 26.9% (21/78) of CAKUT. Hypoplasia (± dysplasia) and agenesis were the two main types of CAKUT; bilateral and unilateral CAKUT were reported with equal frequency. Examination of clinical phenotypes with CAKUT revealed a significant association between CAKUT and craniofacial defects, bifid epiglottis and a Disorder of Sex Development, specifically affecting external genitalia. Lastly, we determined that PHS patients with CAKUT predominately had substitution type variants (as opposed to deletion type variants in non-CAKUT PHS patients) in the middle third of the GLI3 gene. These results provide a foundation for future work aimed at uncovering the molecular mechanisms by which variant GLI3 result in the wide range and severity of clinical features observed in PHS.
Topics: Humans; Pallister-Hall Syndrome; Zinc Finger Protein Gli3; Kruppel-Like Transcription Factors; Abnormalities, Multiple; Nerve Tissue Proteins; Hedgehog Proteins; Urinary Tract; Kidney
PubMed: 36165461
DOI: 10.1002/ajmg.c.31999 -
Hand (New York, N.Y.) Nov 2023Type B ulnar polydactyly is one of the most commonly encountered congenital hand differences and can be treated with ligation or excision. The purpose of this study was... (Review)
Review
BACKGROUND
Type B ulnar polydactyly is one of the most commonly encountered congenital hand differences and can be treated with ligation or excision. The purpose of this study was to determine what factors families consider in selecting treatment for their child with type B ulnar polydactyly.
METHODS
We reviewed treatment outcomes and administered a survey by telephone to parents of children with type B ulnar polydactyly treated at a pediatric hospital between 2015 and 2020. We assessed satisfaction, reasons for choosing treatment, and post-management complications.
RESULTS
The families of 70 of the 156 consecutive treated patients were successfully contacted and agreed to participate (45% response rate). The mean follow-up was 27 months. Twenty-eight chose in-office suture ligation and 42 chose excision. Rapid treatment was prioritized by those who opted for in-office ligation ( = .044). The complication rate for suture ligation was significantly higher than excision ( < .0001), with the most common complication being a residual remnant (nubbin or neuroma stump) (64%). Respondents with residual remnant reported significantly less satisfaction with the appearance of their child's hand ( < .001) and with treatment outcomes ( = .028) compared to those without residual remnants.
CONCLUSIONS
Factors considered by parents in choosing type of treatment for type B ulnar polydactyly vary and may be significantly influenced by the surgeon. Although the majority of parents remain extremely satisfied with their child's outcome regardless of management type, time to treatment plays a determinative role in parents opting for ligation rather than excision in the operating room.
Topics: Child; Humans; Fingers; Polydactyly; Hand; Treatment Outcome; Parents
PubMed: 35658690
DOI: 10.1177/15589447221096707 -
Neurology India 2023
Topics: Child; Humans; Polydactyly; Seizures
PubMed: 37929493
DOI: 10.4103/0028-3886.388066 -
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 -
International Medical Case Reports... 2021Bardet-Biedl syndrome (BBS) is a rare familial and multi-system disorder with an autosomal recessive pattern of inheritance and wide range of clinical variability. Its...
Bardet-Biedl syndrome (BBS) is a rare familial and multi-system disorder with an autosomal recessive pattern of inheritance and wide range of clinical variability. Its main manifestations are progressive retinal dystrophy, renal dysfunction, post-axial polydactyly, central obesity, mental retardation, and hypogonadism. Renal failure is known to be the main cause of death in patients with BBS. Retinal dystrophy and other eye diseases seen in patients with BBS can cause severe visual impairment and blindness at an early age. After written consent was obtained from the patient, we report the clinical and laboratory data of the first case from Ethiopia of an 18-year-old boy with multi-system manifestations of the Bardet-Biedl Syndrome. We discuss the main clinical manifestations of the syndrome including its potentially blinding and fatal features. We emphasize the need for diagnosis of this syndrome at an early age as possible so that proper and multidisciplinary medical care can be given for such patients to prevent unnecessary morbidity and early mortality.
PubMed: 33776488
DOI: 10.2147/IMCRJ.S299421