Bilateral Polydactyly Research Articles

Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis

BackgroundShort-rib thoracic dysplasia 3 with or without polydactyly (SRTD3, OMIM: 613091) is an autosomal recessive disorder. SRTD3 presents clinically with a narrow thorax, short ribs, shortened tubular bones, and acetabular roof abnormalities. Clinical signs of SRTD3 vary among individuals. Pathogenic variants of DYNC2H1 (OMIM: 603297) have been reported to cause SRTD3.MethodsWe performed a detailed clinical prenatal sonographic characterization of a foetus with SRTD3. Trio whole-exome sequencing was used to identify causative variants in the family. The identified variants in the families were validated by Sanger sequencing and mass spectrometry. Multiple computational tools were used to predict the harmfulness of the two variants. A minigene splicing assay was carried out to evaluate the impact of the splice-site variant.ResultsWe evaluated prenatal sonographic images of the foetus with SRTD3, including abnormal rib curvature, narrow thorax, bilateral hypoplastic lungs, bilateral polydactyly, syndactyly, and foetal visceral situs inversus with mirror-image dextrocardia. We revealed novel compound variants of DYNC2H1 (NM_001377.3:c.11483T > G (p.Ile3828Arg) and c.2106 + 3A > T). Various statistical methods predicted that the variants would cause harmful effects on genes or gene products. The minigene assay findings suggested that c.2106 + 3A > T caused the skipping over exon 14, producing an exon 14 loss in the protein.ConclusionThis study identified a foetus with SRTD3 with situs inversus totalis with mirror-image dextrocardia in a Chinese family, revealing two novel compound heterozygous dynein cytoplasmic 2 heavy chain 1 (DYNC2H1) variants, expanding the phenotypic spectrum of SRTD3. The minigene study of c.2106 + 3A > T was predicted to cause an inframe exclusion of exon 14, which was predicted to have important molecular functions. Our findings strongly supported the use of WES in prenatal diagnosis and helped to understand the correlation of genotype and phenotypes of DYNC2H1. The specific sonographic findings and the molecular diagnosis helped add experience to further our expertise in prenatal counselling for SRTD3.

Ellis van Creveld syndrome: An unusual presentation at birth

Ellis Van Creveld, a syndrome comprising of chondrodysplasia, bilateral polydactyly of the hands with skeletal abnormalities, and congenital heart defect is a rare autosomal recessive disease. The prevalence of the disease in the world is 1/6000–20,000 newborns. In the Indian population, it is difficult to estimate the exact prevalence of the disease but, it is mostly seen in the Amish population. The cardinal features are short stature, dysplastic nails and teeth, polydactyly, narrow chest, and heart defects. The crucial differentials are Jeune dystrophy, Weyers syndrome, and McKusick-Kaufman syndrome. Here, we report a neonate, born of a non-consanguineous marriage with a syndromic appearance consisting of a bell-shaped chest, polydactyly, natal teeth, and single atrium. Prognosis is related to respiratory and heart defects in the early neonatal period.

Epidemiological statistics of congenital thumb duplication in the Chinese population

BackgroundThumb duplication is a very common congenital malformation. This study describes and compares the phenotypic manifestations of polydactyly between southwest and northeast China. However, previous studies had a limited sample size. Therefore, this study used a large sample.MethodsA total of 3549 well-characterized thumb duplication cases were divided into group A (southwest China) and group B (northeast China).ResultsIn group A and group B, the left-to-right ratio was 1:1.5 and 1:1.75, respectively, and the female-to-male ratio was 1:1.5 and 1:1.58, respectively.ConclusionsThere were no significant differences in gender distribution or the distribution of left and right polydactyly between the two groups, but the distribution of bilateral polydactyly was significantly different.

A Rare Case Report Along With Surgical Management of Bilateral Maxillary Buccal Exostosis in a Patient of Polydactyly and Distomolars

Buccal exostosis is bony prominence located on buccal side of alveolar ridge of maxilla or mandible. It is commonly seen in maxilla than mandible, whereas the etiology remains unclear. This article presents a rare case of bilateral maxillary buccal exostosis, distomolars and polydactyly along with surgical management of exostosis. A 39-year-old male patient came to the dental OPD with a chief complain of swelling in the right and left back region of upper jaw from 12 years, which was a cosmetic concern to the patient. Patient was medically healthy with no familial history of gingival overgrowth. On examination, patient had polydactyly and bilateral mandibular distomolars. These isolated findings couldn’t be related to any syndrome after thorough examination and medical consultation. Finally, the treatment plan consisted of, oral hygiene instructions, mechanical debridement and periodontal resective osseous surgery, so as to reduce gingival inflammation and improve esthetic by removing the exostosis. Nonsurgical periodontal therapy alone did not reduce the gingival enlargement because of the bony nature of enlargement, thus necessitating surgical intervention. Post-operative evaluation at 1, 3 and 12 months reveled an uneventful healing and no sign of recurrence at surgical sites.

Extreme bilateral polydactyly in a wild‐caught western grey kangaroo

Polydactyly is a congenital malformation resulting from an autosomal dominant mutation manifesting as supernumerary digits of the hands or feet. It is most commonly reported in humans and domestic mammals, though there have also been isolated examples across a range of wild vertebrate species. Here we report a case of extremely unusual bilateral preaxial polydactyly on the pectoral limbs of a male western grey kangaroo (Macropus fuliginosus) from the South West region of Western Australia, in which two supernumerary digits were present on each manus. A supernumerary digit I on each manus was rudimentary in morphology without extrinsic muscular connections. However, supernumerary digit II present on each manus had fully developed extrinsic and intrinsic muscular connections, suggesting that these digits possessed normal function in flexion and extension. An alternative hypothesis is that the two supernumerary digits are both representatives of the most radial digit I, though this would then require the true digit I to have taken on the appearance of digit II by acquiring an additional phalanx and modified muscular attachments. The carpal bones exhibited a number of subtle differences in morphology when compared to normal pentadactyl individuals. The presence of a distal, rather than proximal, epiphysis on the first metacarpal was unexpected but further investigation suggested that this characteristic is perhaps more variable (in this species at least) than has been previously recognized. This case provides an unusual example to be considered within the broader context of limb development.

Surgical Management of Bilateral Maxillary Buccal Exostosis in a Patient with Polydactyly and Distomolars - A Rare Case Report

Introduction: Buccal exostosis is bony prominence located on the buccal side of the alveolar ridge of the maxilla or mandible. It is commonly seen in the maxilla than mandible, whereas the etiology remains unclear. This article presents a rare case of bilateral maxillary buccal exostosis, distomolars, and polydactyly along with surgical management of exostosis.Case Report: A 39-year-old Yemeni male patient came to the dental OPD with a chief complaint of swelling in the right and left-back region of the upper jaw from 12 years, which was a cosmetic concern to the patient. The patient was medically healthy with no familial history of gingival overgrowth. On examination, patient had polydactyly and bilateral mandibular distomolars. These isolated findings couldn’t be related to any syndrome after a thorough examination and medical consultation. Finally, the treatment plan consisted of, oral hygiene instructions, mechanical debridement, and periodontal resective osseous surgery, so as to reduce gingival inflammation and improve esthetic by removing the exostosis. Nonsurgical periodontal therapy alone did not reduce the gingival enlargement because of the bony nature of enlargement, thus necessitating surgical intervention.Conclusion: Postoperative evaluation at 1, 3, and 12 months revealed uneventful healing and no sign of recurrence at surgical sites.

Meckel Gruber syndrome: A case report with review of literature

Meckel-Gruber syndrome, which is firstly described by Friedrich Meckel and Georg B. Gruber, is an autosomal recessive disorder that is characterized triad of occipital encephalocele, bilateral renal dysplasia and polydactyly. Because of the genetic heterogeneity, multiple organs can be affected. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. We have reported a male baby born at 37-week gestation, who has occipital encephalocele, polydactyly and cystic dysplasia of both kidneys. As a result of these clinical findings, Meckel-Gruber Syndrome is suspected for his baby. This study is presented to draw attention to the Meckel Gruber Syndrome which has high risk of recurrence and early diagnosis by ultrasonographic screening can be confident.

Multiple abnormalities in a foetus: a possibility of multifactorial inheritance disorder

AbstractA female foetus of 3.23 kg was delivered by a primigravida of 23 years, after scanning by ultrasound, depicting findings of oligohydramnios and congenital abnormalities. The foetus showed bilateral polydactyly (six digits) in both upper and lower limbs, polycystic enlarged bilateral kidneys, anencephaly, hypoplastic lung, small heart, deformed liver etc. The deformed foetus appeared to be the product of multifactorial inheritance disorders in sequential manner where survival of the foetus could not be possible beyond a period.

Surgical correction of bilateral polydactyly in a dromedary camel: a case report

The following case report describes the diagnosis and surgery of bilateral polydactyly of unknown origin in a dromedary camel. A two-year-old, 290 kg, intact female camel was admitted for surgical removal of bilateral supernumerary digits associated with the medial aspects of the metacarpi and proximal to the fetlock joints. Radiographic examination revealed bilateral polydactyly with complete fusion of metacarpal bones. Surgery consisted of an osteotomy of surplus metacarpal bones combined with amputation of the supernumerary digits. The follow-up at 12 months after surgery revealed a sound camel with an excellent cosmetic outcome.  

Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients

Polydactyly is a common congenital limb deformity. This anomaly may occur in isolation (non-syndromic) or as part of a syndrome. The glioma-associated oncogene family zinc finger 3 (GLI3) is known to be associated with both syndromic and non-syndromic polydactyly. GLI3 plays a predominant role in the pathogenesis of syndromic polydactyly: mutations have been identified in 68% of patients with Greig cephalopolysyndactyly syndrome and 91% of patients with Pallister–Hall syndrome. The knowledge regarding the contribution of GLI3 in non-syndromic polydactyly is currently very limited. In this study, we assembled a cohort of individuals of Chinese ethnicity with non-syndromic postaxial polydactyly. We presented the clinical features and molecular evaluations of 19 probands. GLI3 mutations were identified in 15.8% of probands (3/19) including two novel frame-shift mutations c.3855dupC (p.Met1286HisfsTer18) and c.4141delA (p.Arg1381GlyfsTer38) detected in sporadic cases and one previously reported nonsense mutation (c.1927C>T/p.Arg643Ter) in a familial case. Of note, GLI3 mutations were exclusively detected in patients with bilateral polydactyly affecting both hands and feet. Three out of five (60%) probands with bilateral polydactyly on both hands and feet carried pathogenic mutations in GLI3. Our study demonstrated the role of GLI3 in a significant fraction of patients with non-syndromic bilateral polydactyly affecting both hands and feet.

Bilateral Thumb Polydactyly: Case Report

Polydactyly is the most common congenital digital anomaly of the hand. Surgical treatment is rewarding. In this article, we describe the case of a 15-year-old male who was presenting thumb bilateral polydactyly. The diagnisis was clinic, completed by radiography which has objectified the anomaly type according to Wassel's classification. Operated in our hospital, he received a repair surgery at the level of his right hand by resection of supernumerary hypoplastic thumb, with restoration and anatomical reconstruction of the dominant thumb. He was discharged with no complications. The patient and his family were satisfied with the cosmetic and functional result. We discuss types of duplications, and principle of therapeutic approach of this pathology.

Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report

IntroductionA case of bilateral Peters anomaly with bilateral post axial polydactyly, bilateral camptodactyly, and club foot was examined in a neonatal Kenyan baby girl of African descent who had been delivered in the hospital and admitted to the newborn unit. She died aged five days. There are no cases of Peters anomaly recorded in Africa according to a literature search. In addition, available data point to the majority of the principal associations in Peters anomaly to be genitourinary anomalies, making this case a rare one in its isolated collection of musculoskeletal associations.Case presentationA Kenyan baby girl of African descent who was born through a caesarean section presented in the new born unit of our hospital with bilateral corneal opacities, bilateral polydactyly, camptodactyly and club foot.ConclusionThis is a rare case of Peters anomaly and its association with multiple musculoskeletal abnormalities makes it special.

Postextubation stridor in a child with asymptomatic trifid epiglottis with polydactyly – A rare case report

Abstract Trifid epiglottis is an extremely rare congenital laryngeal anomaly. Trifid anomaly of epiglottis has not been described in literature. In the embryo, epiglottis, hypothalamus, and digital buds develop synchronously. Some disturbances during this stage may account for the concurrence of trifid epiglottis and polysyndactyly. We report a trifid epiglottis in a 6 year old child with congenital bilateral polydactyly of hand and foot who was asymptomatic and developed postexubation mild stridor after general anesthesia for excision of the extra digit which was managed conservatively.

Trisomy 17 in a baboon (Papio hamadryas) with polydactyly, patent foramen ovale and pyelectasis

Trisomy 13 in humans is the third most common autosomal abnormality at birth, after trisomy 21 and trisomy 18. It has a reported incidence of between 1:5,000 and 1:30,000 live births. It is associated with multiple abnormalities, many of which shorten lifespan. We describe here the first reported case of a baboon (Papio hamadryas) with trisomy of chromosome 17, which is homologous to human chromosome 13. The trisomic infant was born to a consanguineous pair of baboons and had morphological characteristics similar to those observed in human trisomy 13, including bilateral polydactyly in the upper limbs, a patent foramen ovale, and pyelectasis. Molecular DNA analysis using human chromosome 13 markers was consistent with the affected infant inheriting two copies of chromosome 17 derived from the same parental chromosome. This trisomy was, therefore, due to either an error in meiosis II or the result of postzygotic nondisjunction. The parental origin, however, could not be determined.

Bilateral Polydactyly in a foal

The following case report describes the diagnosis and surgery of bilateral polydactyly of unknown origin in a colt. A 7-month-old Berber colt was referred for cosmetic and curative excision of supernumerary digits. Radiographic examination revealed bilateral polydactyly and well-developed first carpal bones. Surgery consisted of an osteotomy of both second metacarpal bones combined with an amputation of the supernumerary digits. The follow-up at 18 months after surgery revealed a sound horse with an excellent cosmetic outcome.

Ellis-Van creveld′s syndrome (a case rreport)

Abstract A 13 years old male patient had stunted growth, bilateral polydactyly, fusion of capitate and hamate on right side, incomplete duplication of 1st metacarpal at its proximal end, poorly ossified epiphyses of lower end of radius & ulna, valgus deformity of right knee, conical shape of tibial epiphyses, nonossified fibular epiphyses & a small bony exostoses from medial end of right tibia, abnormal teeth and nail of hand. Also there was evidence of left to right shunt in the heart. Oral frenulae, pseudocleft of upper lip were also noticed.

Unilateral Pentadactyly in a Yellow-shouldered Amazon (Amazona barbadensis)

Unilateral pentadactyly and its surgical resolution are described in a 75-day-old female yellow-shouldered Amazon (Amazona barbadensis). The bird had a malformed left pes, whereas the axial skeleton and the thoracic and pelvic limbs skeleton were normal radiographically and clinically, excluding the left pes. The only clinical sign observed was lameness. The male clutch- mates were normal on orthopedic examination. The affected bird underwent surgery successfully for removal of the supernumerary digit. The bird exhibited some distress after the amputation of the extra digit, but 3 months later, was perching and behaving normally. Treatment is recommended as soon as possible after presentation, preferably before the bird begins perching. The recommen- dation is made that birds with unilateral or bilateral polydactyly not be used for breeding, because this condition may have a genetic component.

Acute Cerebellar Hemorrhage in a Patient with Klinefelter Syndrome: XXY Karyotype Obtained Postmortem from Cells from Pericardial Fluid

A case of Klinefelter syndrome and a spontaneous cerebellar hemorrhage in a 12-year-old boy is presented. Autopsy revealed that the hemorrhage was due to the rupture of a dilated artery in an arteriovenous malformation in the right cerebellar hemisphere. The small, undescended testes exhibited partial atrophy of the seminiferous tubules. Postmortem chromosome analysis of cells from the pericardial fluid demonstrated a 47, XXY karyotype. He had previous surgical treatment for bilateral thumb polydactyly and patent ductus arteriosus. In juvenile cases of sudden death with overlapping morphological dysgenesis, postmortem karyotyping may provide important diagnostic information.

Visual loss as the presenting sign of Jeune syndrome

We describe a 5-year-old girl with Jeune syndrome. The presenting symptoms included visual loss and night blindness only. In the neonatal period she had surgery on both hands for bilateral polydactyly. Following clinical and radiological examination a diagnosis of Jeune syndrome was proposed. Although Jeune syndrome is often characterized by multiple organ abnormalities, our patient presented with ocular symptoms at the age of 5 years.

Prenatal Diagnosis of dup(3q) syndrome

There are numerous reports on the duplication of the long arm of chromosome 3, ranging from 3ql2 to 3qter. Although the duplicated segments vary in size, a defined clinical phenotype, dup(3q) syndrome, has been investigated by us and others. A 22 year old G4P0030 (1SPAB, 2ELAB) Caucasian was referred at 31 weeks gestation for fetal anomalies on sonogram including hydrocephalus, bilateral polydactyly, and a possible CHD Amniocentesis was performed and showed an unbalanced chromosomal rearrangement: 46,XX,der(9)t(3;9) (q26.1;p24).ish. 46,XX,der(9)t(3;9)(q26.1;p24) (WCP3+WCP9+), and a positive acetylcholinesterase. Parental chromosomes showed that the father was a carrier of a balanced rearrangement: 46,XY,t(3;9) (q26.1;p24). The baby was bom at 42 weeks gestation following prostaglandin induction due to failure to progress. She weighed 4264 grains and cried spontaneously with APGAR scores of 8/8 at 1 and 5 minutes. The major dysmorphic features included: up-slanting palpebral fissures, synophyrs, prominent alveolar ridge, hypertelorism, down-turned corners of the mouth, short neck with redundant skin folds, bilateral postaxial polydactyly, a deep sacral dimple and an anteriorly displaced anus with low rectal stenosis. During the surgical correction of the rectal stenosis, a pre-sacral teratoma was excised. The telomeric DNA segment (9p24-pter) lost due to the translocation is generally associated with chromosomal capping rather than phenotypic expression. The clinical manifestations consistent with dup(3q) syndrome are being presented. To our knowledge, teratoma has not been described before as part of the dup3q phenotype.