Polybrachysyndactyly in all 4 extremities: Case report.

INTRODUCTION AND IMPORTANCE: Polybrachysyndactyly is the combination of malformations and is considered a congenital anomaly that is very difficult to treat. In addition to presenting as a disabling entity, it is a reason for little acceptance under the aesthetic standards established by society. CASE PRESENTATION: 6-year-old male patient with polybrachysyndactyly in all 4 extremities. The parents rejected surgery at a younger age, however, the social/aesthetic pressure exerted on the patient at school and the child's inability to perform activities in a common way, motivated them to make a new decision. CLINICAL DISCUSSION: Different surgical techniques were used on all four extremities. A soft tissue technique was performed on the pinkies of both feet and ray cuts to correct syndactyly of both thumbs of the feet and middle fingers of both hands, and excision. Extirpations were obtained: one thumb of the right foot, one thumb of the left foot and two middle fingers (one of each hand). He was discharged after recovery from surgery. CONCLUSION: Cases of polysyndactyly are considered extremely rare, the first thing to evaluate is the presence of other signs that could be part of a syndromic association in order to proceed with surgical intervention that allows the patient to lead a life as far away from aesthetic stigmas that could damage his mental health. EVIDENCE BASED MEDICINE RANKING: Level IV.

Optimal timing for plastic surgical procedures for common congenital anomalies: A review.

Apart from listening to the cry of a healthy newborn, it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents. The global incidence of children born with congenital anomalies has been reported to be 3%-6% with more than 90% of these occurring in low- and middle-income group countries. The exact percentages/total numbers of children requiring surgical treatment cannot be estimated for several reasons. These children are operated under several surgical disciplines, viz, paediatric-, plastic reconstructive, neuro-, cardiothoracic-, orthopaedic surgery etc. These conditions may be life-threatening, e.g., trachea-oesophageal fistula, critical pulmonary stenosis, etc. and require immediate surgical intervention. Some, e.g., hydrocephalus, may need intervention as soon as the patient is fit for surgery. Some, e.g., patent ductus arteriosus need 'wait and watch' policy up to a certain age in the hope of spontaneous recovery. Another extremely important category is that of patients where the operative intervention is done based on their age. Almost all the congenital anomalies coming under care of a plastic surgeon are operated as elective surgery (many as multiple stages of correction) at appropriate ages. There are advantages and disadvantages of intervention at different ages. In this article, we present a review of optimal timings, along with reasoning, for surgery of many of the common congenital anomalies which are treated by plastic surgeons. Obstetricians, paediatricians and general practitioners/family physicians, who most often are the first ones to come across such children, must know to guide the parents appropriately and convincingly impress upon the them as to why their child should not be operated immediately and also the consequences of too soon or too late.

Surgical management of bilateral preaxial and postaxial polydactyly with syndactyly: A case report.

INTRODUCTION AND IMPORTANCE: Polydactyly is the most common congenital malformation in the limbs. However, it is rare for a patient to exhibit concomitant preaxial and postaxial polydactyly alongside syndactyly in both limbs, and there are limited recommendations for such conditions. This report presents a case of bilateral preaxial and postaxial polydactyly with syndactyly of the feet. PRESENTATION OF CASE: A 2-year-old girl was presented with an excess number of toes on both feet and an abnormal connection between the second and third toes. After a physical examination and plain radiography, the patient was diagnosed with bilateral preaxial and postaxial polydactyly with syndactyly. We performed a one-stage surgical correction consisting of ablation at the extra digit of bilateral great and little toes, followed by syndactyly release using z-plasty. The surgery was uneventful, and the parents were satisfied with the result. DISCUSSION: A plain radiograph is necessary for pre-operative planning. We discarded the excess digits for cosmetics and soft and hard tissue for optimal function. It is necessary to preserve the soft tissues, remove the auxiliary digit, realign the digit, and restore the ligaments to preserve digit stability. CONCLUSION: The complexity of this case required a meticulous surgical approach to address the structural abnormalities, restore functionality, and improve cosmetic appearance. In this case, the surgery can be performed in one procedure to minimize patient morbidity.

Like Father, Like Daughter - Ectodermal Dysplasia-Syndactyly Syndrome: A Case Report.

Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is an exceedingly rare condition associated with mutations in the PVL4 gene. It is characterised by sparse, brittle hair, eyebrows and eyelashes, abnormal dentition and nails, along with bilateral cutaneous syndactyly involving the fingers and toes. We report a 2-year-old girl who presented to us with bilateral complete simple syndactyly of the third and fourth web spaces of the hands, along with bilateral syndactyly of both feet involving the second to fourth toes. Upon examination, sparse hair and eyebrows, along with abnormal dentition, were noted. Thorough clinical examination and genetic analysis were conducted on the affected child and her father, who exhibited similar clinical features. Genetic analysis revealed a homozygous nonsense mutation in the PVL4 gene in both individuals. According to the literature, EDSS1 has been reported in only 10 families worldwide, and there are no reported cases from India. Level of Evidence: Level V (Therapeutic).

Webplasty using an external fixator for complex syndactyly caused by Apert syndrome.

BACKGROUND: Webplasty can be conducted for complex syndactyly caused by Apert syndrome (also referred to as Apert hand) by extending the soft tissue in the lateral direction using an external fixator. This study aimed to verify the usefulness of webplasty without skin grafting. METHODS: Webplasty with lateral extension was conducted at a single institution from 2015 to 2023. The patients were four children with Apert hand aged 1-3 years. A custom-made small external fixator was used for all of the soft tissue extension. RESULTS: Webplasty without skin grafting was completed by the time all five patients were 5-6 years of age. CONCLUSION: Webplasty without skin grafting was possible with lateral extension of the soft tissue using a simple external fixator.

Megadactyly with syndactyly of the right toes, a rare case report.

INTRODUCTION AND IMPORTANCE: Megadactyly of the foot is uncommon non hereditary congenital anomalies of the extremities and poses a dilemma on treatment however multiple treatment modalities were developed but is not uniform to all patients with megadactyly. The goal of the surgical treatment is to achieve painless and function of the foot. CASE PRESENTATION: We report a 14 years old male presented with complaints of progressive enlargement 2nd, 3rd, 4th and 5th toes of the right foot since birth, associated with inability to wear shoes. One month prior to admission he experienced gradual onset painful forefoot and toes that was increasing in severity with time associated with inability to walk normally. He is the first born in a family of four children and his other siblings are healthy with no anomalies. On clinical evaluation, he was health with stable vitals, with enlarged 2nd, 3rd, 4th and 5th toes of the right foot with no tenderness with intact neurovascular status. On clinical and radiological evaluation he was diagnosed with congenital megadactyly of the right foot, a multidisciplinary team including orthopedic surgeons and prosthetics team agreed to do trans-metatarsal, then partial foot prosthesis fabrication. He underwent trans-metatarsal amputation of the affected foot and tissue sample was taken for histopathology. The histological findings revealed bone enlargement with increased proliferation of subcutaneous adipose tissues with increased fibrous septae together with thinning of the epidermis, features suggestive of lipomatosis. The wound site healed very well after 14 days stitches were removed and the child was scheduled for follow-up after six weeks, 12 weeks and 6 month post-surgery. On the last visit he was free from pain on his right forefoot and toes, able to wear fabricated partial foot prosthesis and shoes normally, walk with no incapacitation. DISCUSSION: Our case report is unique due to the involvement of the multiple toes of the right foot with syndactyly at third and fourth toes and its management is challenging because there is no uniformity in its surgical treatment, in our case trans-metatarsal amputation was done and the patient progressed well after six months of follow up. CONCLUSION: Foot megadactyly is uncommon congenital malformation, most common on the right foot. Regardless of the dilemma on treatment, the trans-metatarsal amputation and a fabricated prosthesis to our patient fulfilled the goals of painless right foot and able to wear shoes and walk normally with no impairment.

A novel GLI3 frameshift mutation in a Chinese pedigree with polydactyly: A case report.

Background: GLI3 gene mutations can result in various forms of polysyndactyly, such as Greig cephalopolysyndactyly syndrome (GCPS, MIM: #175700), Pallister-Hall syndrome (PHS, MIM: #146510), and isolated polydactyly (IPD, MIM: #174200, #174700). Reports on IPD-associated GLI3 mutations are rare. In this study, a novel GLI3 mutation was identified in a Chinese family with IPD. Results: We report a family with six members affected by IPD. The family members demonstrated several special phenotypes, including sex differences, abnormal finger joint development, and different polydactyly types. We identified a novel frameshift variant in the GLI3 gene (NM_000168.6: c.1820_1821del, NP_000159.3: p.Tyr607Cysfs*9) by whole-exome sequencing. Further analysis suggested that this mutation was the cause of polydactyly in this family. Conclusions: The discovery of this novel frameshift variant in our study further solidifies the relationship between IPD and GLI3 and expands the previously established spectrum of GLI3 mutations and associated phenotypes.

Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome's Rare Features Across Generations in a Familial Trilogy.

Oro-facial-digital syndrome, specifically Mohr syndrome, is an uncommon genetic disorder characterized by predominant oro-facial anomalies and polysyndactyly. While typically associated with autosomal recessive and X-linked dominant inheritance patterns, this case presents an autosomal dominant mode of transmission. This report documents the clinical presentation of three individuals, a 12-year-old male child and two females, 10-year-old and eight-year-old, who have inherited the disorder from their ancestors. The observed features include post-axial polysyndactyly in both upper and lower limbs, with the male child exhibiting additional manifestations of strabismus and knee joint defects. Symptomatic management is pursued due to the absence of complications, with surgical interventions and subsequent cosmetic repairs planned for all three children. Post-surgical physiotherapy is scheduled as part of their comprehensive treatment plan. The prognosis for this disorder is generally favorable, with a complete recovery anticipated and no complications expected.

Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China.

OBJECTIVE: To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016-2020. METHODS: Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016-2020. Prevalence of birth defects (polydactyly or syndactyly) is the number of cases per 1000 births (unit: ‰). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ2trend) were used to determine trends in prevalence by year. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with polydactyly and syndactyly. RESULTS: Our study included 847,755 births, and 14,459 birth defects were identified, including 1,888 polydactyly and 626 syndactyly cases, accounting for 13.06% and 4.33% of birth defects, respectively. The prevalences of total birth defects, polydactyly, and syndactyly were 17.06‰ (95%CI: 16.78-17.33), 2.23‰ (95%CI: 2.13-2.33), and 0.74‰ (95%CI: 0.68-0.80), respectively. Most polydactyly (96.77%) and syndactyly (95.69%) were diagnosed postnatally (within 7 days). From 2016 to 2020, the prevalences of polydactyly were 1.94‰, 2.07‰, 2.20‰, 2.54‰, and 2.48‰, respectively, showing an upward trend (χ2trend = 19.48, P < 0.01); The prevalences of syndactyly were 0.62‰, 0.66‰, 0.77‰, 0.81‰, and 0.89‰, respectively, showing an upward trend (χ2trend = 10.81, P = 0.03). Hand polydactyly (2.26‰ vs. 1.33‰, OR = 1.69, 95%CI: 1.52-1.87) and hand syndactyly (0.43‰ vs. 0.28‰, OR = 1.42, 95%CI: 1.14-1.76) were more common in males than females. Polydactyly (2.67‰ vs. 1.93‰, OR = 1.38, 95%CI: 1.26-1.51) and syndactyly (0.91‰ vs. 0.62‰, OR = 1.47, 95%CI: 1.26-1.72) were more common in urban areas than in rural areas. Compared to maternal age 25-29, hand polydactyly was more common in maternal age < 20 (2.48‰ vs. 1.74‰, OR = 1.43, 95%CI: 1.01-2.02) or ≥ 35 (2.25‰ vs. 1.74‰, OR = 1.30, 95%CI: 1.12-1.50). CONCLUSION: In summary, we have described the prevalence and epidemiology of polydactyly and syndactyly from hospital-based surveillance in Hunan Province, China, 2016-2020. Our findings make some original contributions to the field, which may be valuable for future research.

Fraser syndrome with limb reduction defect: a rare and unique anatomic variation.

INTRODUCTION: Fraser syndrome, named after George Fraser, is an autosomal recessive disorder showing a highly variable interfamilial phenotypic variation, with malformations ranging from minor symptoms to lethal anomalies like renal agenesis, incompatible with survival. Limb reduction defects have not been reported to be associated with it. CASE PRESENTATION: A 21-year-old primigravida presented to the antenatal outpatient department with a level two targeted anomaly scan report suggestive of severe oligohydramnios with suspected renal agenesis. The cranial vault bones were compressed, and orbital globes and lenses could not be visualized. Renal agenesis was confirmed due to sleeping adrenals sign, non-visualization of the urinary bladder, and Doppler of renal arteries. A detailed examination of the fetal head in the sagittal section showed the absence of an eye globe and lens, arousing suspicion of Fraser syndrome. After pregnancy termination, a complete fetal autopsy was done to look for any additional findings. CONCLUSION: Patients who have a syndromic mix of acrofacial and urogenital abnormalities with or without cryptophthalmos should be evaluated for Fraser syndrome, which can be diagnosed by clinical examination and perinatal autopsy.

International Cohort of Neonatal Timothy Syndrome.

INTRODUCTION: Timothy syndrome (TS) is an extremely rare, multisystem disorder classically associated with long QT, syndactyly, ventricular arrhythmias, and hypoglycaemia. A neonatal diagnosis allows maximal medical and device therapy to be implemented to avoid malignant arrhythmias and sudden cardiac death. METHODS: This was a retrospective case series study of type I TS (TS1) patients using data from the Timothy Syndrome Foundation's international registry, encompassing patients with a genetic diagnosis (CACNA1C variant G406R in exon 8A) recruited over a 28-year period. RESULTS: Forty-four cases of TS1 were included (26 male; 60%). Mean gestational age (GA) was 35.6 weeks (range 28 weeks - term), with 43% of patients born less than 37 weeks GA. In TS1 patients presenting with foetal bradycardia, mean GA was significantly lower (34.2 weeks, p < 0.05). Foetal bradycardia secondary to atrioventricular block was present in 20 patients (45%), resulting in premature delivery in 14 patients (32%). Fifteen patients (34%) were diagnosed with TS1 as neonates. Long QT at birth helped secure a diagnosis in 25 patients (57%). Syndactyly was seen in most patients (n = 40, 91%). Twenty patients died, with an average age of death of 2.3 years (range 1 month-6 years). Of the 7 patients who died before the first year of life (16%), the average age of death was 2.5 months. CONCLUSION: TS is associated with high early mortality. TS should be considered in paediatric patients presenting with long QT and syndactyly. Recognition of TS in the neonatal period allows for early intervention to prevent life-threatening arrhythmias.

[About a case of Fraser syndrome. Autopsy of a 37 weeks gestation fetus with multiple malformations]. / A propósito de un caso de síndrome de Fraser. Autopsia de un feto de 37 semanas de gestación con múltiples malformaciones.

Fraser syndrome or cryptophthalmos-syndactyly syndrome is a rare genetic disease, the diagnosis of which is based on a series of major and minor clinical criteria and that can be supported by genetic tests. This article presents the case of a fetal autopsy at 37 weeks of gestation with suspicion of CHAOS syndrome (congenital obstructive syndrome of the upper airways).

Late management of amniotic bands syndrome with incomplete syndactyly: A case report of 4-year-old child.

INTRODUCTION: Amniotic band syndrome is a fetal entrapment in strands of amniotic tissue. This condition causes multiple deformities ranging from simple constricting bands to lymphedema, autoamputation, syndactyly and other congenital anomalies. Reconstructive surgery is the main treatment for ABS. PRESENTATION OF CASE: A 4-year-old male presented with multiple constricting bands affecting both hands in addition to an incomplete syndactyly between the third and fourth left digits. A two-staged operation was performed to repair the deformities with 6 months interval. Series of Z-plasties were used to release the constricting bands and the syndactyly was separated by a web zigzag incision approach and full-thickness skin grafting. DISCUSSION: Management of ABS must be individualized. The urgency of the surgical release depends on the depth of the constricting bands and their influence on circulation and lymphatic drainage. Superficial bands can be released electively for cosmetic appearance while deep bands should be released as soon as possible. The separation of syndactyly should be done at the first year of life to maintain the digits functionality and parallel growth. CONCLUSION: This paper emphasizes the importance of early repair of constricting bands associated with syndactyly to avoid the consequences of the delay on digital growth.

An extremely rare case of Oro-facial digital syndrome: A case report.

BACKGROUND: Oro-facial digital(OFD) syndrome is a rare anomaly which is often missed out as just cleft lip and palate.It is an X-linked dominant condition with lethality in males. It however results from the pleotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits and it also includes lower IQ and mental retardation. 14 different variations of these syndrome can be seen with the majority of cases of type 1 and 2 based on characteristic clinical manifestations. CASE REPORT: Present case report describes a 9 year old girl patient who was mis-diagnosed with partial cleft palate and was later diagnosed as orofacial digital syndrome based on the clinical and oral features. CONCLUSION: Not much literature is present regarding this topic and with no relevent family history makes this case a one in a million case of OFD. Therefore, this case report is a complete insight on Oro-facial digital syndrome.

A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.

BACKGROUND: Cenani-Lenzsyndactyly syndrome (CLSS; OMIM 212780) is a rare autosomal recessive acral deformity, which is mainly manifested in the fusion of fingers or toes, disordered phalangeal structure, shortening or fusion of the radius and ulna, and renal hypoplasia. CASE PRESENTATION: Our report described an individual with mild phenotypes from China. His parents were not consanguineous. The affected individual was non-dysmorphic. Standard X-ray showed that the both hands have only four metacarpal bones. The distal end of the first metacarpal bone on the right was relatively slender, and the distal phalanx was absent. Multiple phalanges and some soft tissues of both hands were fused. Exome sequencing revealed a novel biallelic c.282C⟩Avariant in low-density lipoprotein receptor-related protein 4 (LRP4; OMIM604270; NM_002334.4) causing p. (Asn94Lys) change in the encoded protein. This variant is predicted to be potentially pathogenic, affecting protein structure and function. CONCLUSION: We report a novel missense variant present in homozygosity in LRP4 to broaden the pathogenic spectrum of LRP4 in syndactyly, and exome sequencing technology is a powerful tool for genetic analysis in prenatal diagnosis and medical research, as a preferred method for the diagnosis of syndactyly and related phenotypes.

Common Pediatric Hand Anomalies.

Upper extremity congenital anomalies in the newborn are second only to congenital heart anomalies. Some of the more commonly encountered upper extremity anomalies are trigger thumb, thumb hypoplasia, polydactyly, syndactyly, and amniotic band syndrome. While some conditions occur in isolation, others are known to commonly occur in association with syndromes. Familiarity with these conditions is important not only to provide adequate evaluation and workup of these patients but also to deliver appropriate surgical intervention and prepare parents with appropriate expectations. In this article, we outline the etiology, classification, surgical management, and outcomes of these five commonly encountered upper extremity congenital anomalies.

Unilateral Syndactyly, Hemihypertrophy, and Hyperpigmentation with Mosaic 2q35 Deletion.

Pigmentary mosaicism (PM) is a clinical condition of dyspigmentation with chromosomal abnormality. PM presents with both cutaneous and extracutaneous manifestation. Hypomelanosis of Ito and linear and whorled nevoid hypermelanosis are syndromic disorders in which PM is one of the manifestations. We present a case of a 1-year-old child with a unique constellation of symptoms of unilateral syndactyly, hemihypertrophy, and skin hyperpigmentation. Karyotype from peripheral blood was normal. We found genetic aberration (mosaic 2q35 deletion) in the present case from fibroblast cultured from the affected area. This unique constellation of symptoms was previously reported once but genetic study was not done from the affected tissue. This case highlights the need of considering fibroblast culture-based genetic study rather than doing simple karyotype from peripheral blood. Genetic study also established the molecular basis of symptoms in the above case.

Correction of symbrachydactyly: a systematic review of surgical options.

Symbrachydactyly is a rare congenital malformation of the hand characterized by short or even absent fingers with or without syndactyly, mostly unilaterally present. The hand condition can vary from a small hand to only nubbins on the distal forearm. This study aims to systematically review the surgical management options for symbrachydactyly and compare functional and aesthetic outcomes.The review was performed according to the PRISMA guidelines. Literature was systematically assessed searching the Cochrane Library, PubMed, Embase, and PROSPERO databases up to January 1, 2023. Studies were identified using synonyms for 'symbrachydactyly' and 'treatment'. Inclusion criteria were the report of outcomes after surgical treatment of symbrachydactyly in humans. Studies were excluded if they were written in another language than English, German, or French. Case reports, letters to the editor, studies on animals, cadaveric, in vitro studies, biomechanical reports, surgical technique description, and papers discussing traumatic or oncologic cases were excluded.Twenty-four studies published were included with 539 patients (1037 digit corrections). Only one study included and compared two surgical techniques. The quality of the included studies was assessed using the Modified Coleman Methodology Score and ranged from 25 to 47. The range of motion was the main reported outcome and demonstrated modest results in all surgical techniques. The report on aesthetics of the hand was limited in non-vascularized transfers to 2/8 studies and in vascularized transfers to 5/8 studies, both reporting satisfactory results. On average, there was a foot donor site complication rate of 22% in non-vascularized transfers, compared to 2% in vascularized transfers. The hand-related complication rate of 54% was much higher in the vascularized group than in the non-vascularized transfer with 16%.No uniform strategy to surgically improve symbrachydactyly exists. All discussed techniques show limited functional improvement with considerable complication rates, with the vascularized transfer showing relative high hand-related complications and the non-vascularized transfer showing relative high foot-related complications.There were no high-quality studies, and due to a lack of comparing studies, the data could only be analysed qualitatively. Systematic assessment of studies showed insufficient evidence to determine superiority of any procedure to treat symbrachydactyly due to inadequate study designs and comparative studies. This systematic review was registered at the National Institute for Health Research PROSPERO International Prospective Register of Systematic Reviews number: CRD42020153590 and received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.Level of evidenceI.Systematic review registrationPROSPERO CRD42020153590.