Prenatal diagnosis of triphalangeal thumb-polysyndactyly syndrome by ultrasonography combined with genetic testing:A case report

BACKGROUND Triphalangeal thumb-polysyndactyly syndrome(TPT-PS)is a rare type of congenital limb deformity,and most studies focus on the genetics.Case reports of the sonographic characteristics of TPT-PS during pregnancy are rare.CASE SUMMARY A 30-year-old woman(G3P1)who had pregnancies with TPT-PS fetuses is presented.The possibility of TPT-PS was shown by ultrasound performed at the 19th wk of pregnancy,featuring hands with six metacarpals,an extra digit at the 5th finger side,and an abnormally widened thumb.Whole-exome sequencing was subsequently conducted.The results showed that exons 1-17 of the LMBR1 gene had a heterozygous duplication,with a length of approximately 253 kb.CONCLUSION We suggest prenatal ultrasound examination combined with genetic testing to diagnose TPT-PS accurately and to help clinicians and patients make decisions.

Epidemiology of syndactyly in New York State

BACKGROUND There is paucity of literature focusing on the incidence and surgical management of syndactyly. In this study, we describe the incidence and rates of surgical management of patients with syndactyly in New York State.AIM To describe the incidence and surgical management of patients with syndactyly using an America’s population-based database.METHODS We conducted a retrospective study using the New York State Statewide Planning and Research Cooperative System. All patients with a diagnosis of syndactyly at birth were identified and followed longitudinally to determine yearly incidence as well as demographic and surgical factors. Descriptive statistics and univariate analyses were used.RESULTS There were 3306 newborns with a syndactyly diagnosis between 1997 and 2014 in New York State. The overall incidence was 0.074% or 7 cases per 10000 live births.A small number of patients underwent surgical correction in New York State(178 patients, 5.4%). Among the surgical patients, most of the operations were performed before the age of two(79%). Approximately 87% of surgeries were performed at teaching hospitals, and 52% of procedures were performed by plastic surgeons. Skin grafting was performed in 15% of cases. Patients having surgery in New York State were more likely to have Medicaid insurance compared to patients not having surgery(P = 0.02).CONCLUSION Syndactyly occurs in approximately 7 per 10000 live births, and the majority of patients undergo surgical correction before age two. There may be severalbarriers to care including the availability of specialized hand surgeons, access to teaching hospitals, and insurance status.

Diagnostic value of special examination of thumb syndactyly

Objective To investigate the value of special examination in the diagnosis of thumb syndactyly. Methods Fourteen cases of thumb deformities were detected preoperatively by X-ray plain film, angiography and ultrasound examination. The deformities of bone, hemokinesis of thumbs and its blood supply were analysed. The results were compared with their pathological changes during the operation. The deformity was corrected by operations of bone resection, reconstruction of tendon insertion site and preservation of main arteries. Results There were bone deformities 13 cases, abnormal or absent tendon insertion of the main thumb 14 cases. The nutrient of the deformity thumb was supplied by main trunk artery in 11 cases. Conclusion Angiography and ultrasonic examination play an important role in the diagnosis of thumb syndactyly. It can help determine appropriate surgical procedure so that secondary deformities can be prevented after operation. 3 refs,5 figs.

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.

Resolution of 2nd, 3rd or 4th interdigital space incomplete, simple syndactyly using a random vascularity flap

Syndactyly consists of a variable fusion of soft tissue or of bone in adjacent fingers. This has important aesthetic and functional impacts on the development of the child due to the abnormal appearance of the hand. When the 1st web space is affected, it compromises grasp and development of the clamp function. Affliction of the 2nd, 3rd or 4th webspaces hinder the independent movement of the fingers adjacent to it. Current syndactyly release techniques have inherent disadvantages such as the use of skin from both the interdigital halves of the syndactylized fingers, the need to skin graft the donor site, postoperative flexion contracture, and need of 2 or more surgical procedures to obtain the desired result. The authors present 7 cases with incomplete simple 2nd, 3rd or 4th webspace syndactylies of multiple etiologies. All cases were treated at the unit of the corresponding author. The flap used in the treatment for all 7 cases did not require skin grafting of the flap donor site and used only skin from one of the fingers, while achieving a webspace dimension similar to normality, with a short recovery period. Furthermore, there were no postoperative finger contractures, diminishing the risk of future relapse.

Postburn dorsal and palmar interdigital commissural contractures: Anatomy and treatment—A new approach

Background: Postburn dorsal and palmar interdigital commissural contracture is one of the most common complications of hand burns which restricts finger motion and presents a serious cosmetic defect. Many techniques and flaps have been suggested, and research continues for more effective techniques as the problem has not been solved. Methods: Anatomy of scar interdigital commissural contractures was studied in 760 operated patients aiming to develop a new, more effective surgical technique. Results: There are two anatomic types of scar commissural contractures: edge and total. Dorsal and palmar commissural contractures are identified as the edge type and are caused by the fold located along interdigital fossa’s edge. In the fold, the lateral sheet is scars, and the medial sheet and adjacent interdigital fossa are healthy skin. Total commissural contracture is characterized by interdigital fossa obliteration and phalanges’ fusion. Scar sheets have a trapeze-shaped surface deficiency (contracture cause), which spreads from the fold’s crest to metacarpophalangeal joints. The surgical technique consists of scar surface deficiency compensation and commissural groove and slant restoration which can be optimally achieved with the trapezoid adipose-cutaneous flap. The best donor site is interdigital fossa. The small skin grafts on the lateral surface of proximal phalanges did not present a cosmetic defect. Conclusion: Dorsal and palmar interdigital commissural contractures are of an edge type and can be successfully reconstructed with trapeze-flap plasty.

Isolated sporadic bilateral split hand malformation: a case report and review of the literature

Typical cleft hand is a rare disorder usually inherited in an autosomal-dominant manner.We report a case of bilateral typical cleft hand in a 6-year-old male.There was no positive family history of such presentation,and no systemic manifestations were associated with this entity.Preanesthetic evaluation revealed no systemic or airway challenges and parents were counseled for routine surgical and anesthetic risks.The hands underwent successful surgical reconstruction with no peri-operative complications.To the best of our knowledge,this is thefirst report of an operated case of an isolated,bilateral,and sporadic typical split hand malformation.