Aesthetic correction of short nail deformity in congenital brachydactyly Type D by distraction lengthening.

Brachydactyly Type D is a congenital condition of the thumb in which there is a short and broad thumbnail. Although the thumb function is often unaffected, some patients seek surgery for cosmetic improvement. This study aimed to describe our method of distraction lengthening to correct nail deformity in brachydactyly Type D. A total of 163 thumbs in 95 patients underwent this surgery between 2018 and 2021.The mean thumbnail length improved from 9 mm to 15 mm, with a mean percentage increase of 62%. The ratio of nail length to width changed from 0.6 to 1.1, which was equal to normal. The mean increased fingernail length/width ratio was 0.5, with a percentage change of 78%. No obvious surgical scar was observed. The thumb function was not significantly affected. We conclude that aesthetic correction of short nail deformity in brachydactyly Type D can be achieved by distraction lengthening with high satisfaction and without functional impairment.Level of evidence: IV.

Genetics, Clinical Presentation, Radiological Features, and Midterm Outcome of Closing Wedge Osteotomy in Children With Brachydactyly Type C.

BACKGROUND: Brachydactyly (BD) type C is a rare form of familial BD caused by GDF5 mutations. Some of the affected children have severe clinodactyly requiring surgery. The literature is limited to case reports. PATIENTS AND METHODS: The current retrospective study included 15 Saudi Arabian families with 42 affected children seen by the author for 25 years. A total of 23 digits (in 23 hands) underwent surgical correction of clinodactyly using a closing wedge osteotomy. The current study reports on the genetics, clinical presentation, radiological features, and midterm outcome of surgery. RESULTS: Genetic analysis was done in 6 families and confirmed the presence of 2 novel missense mutations (p.Met173Val in 3 families and p.Thr203Asn in 3 families) in the GDF5 gene. All cases in the study group demonstrated the classical clinical and radiographic features of BD type C. However, only 1 hand showed all the features of angel-shaped bony defect. The clinodactyly defect was mostly observed in the index or middle fingers. Surgery for the clinodactyly defect was only done if there was finger overlap. Closing wedge osteotomy was done in a total of 23 digits with a satisfactory outcome. CONCLUSIONS: This study represents the largest reported series of children undergoing surgery for correction of BD type C clinodactyly with a uniform technique performed by a single surgeon. The closing wedge osteotomy used resulted in good midterm outcomes, although long-term follow-up is lacking.

Shortening Scarf Osteotomy for Macrodactyly and Valgus of the Hallux in Acrodysostosis Lesser Toes Brachydactyly.

LEVELS OF EVIDENCE: Level V: Case report.

Symbrachydactyly.

Background: Symbrachydactyly is a unilateral congenital hand malformation characterized by failure of formation of fingers and the presence of rudimentary digit nubbins. The management is variable and are investigated in this review. Methods: A detailed review of the literature was compiled into succinct clinically relevant categories. Results: Etiology, classification, non-surgical management, surgical intervention, and patient oriented outcomes are discussed. Conclusions: All interventions should prioritize realistic, evidence-supported appearance and functional gains. Studies of the baseline function and quality of life of children with symbrachydactyly would allow surgeons to better understand functional changes associated with various interventions and would help surgeons and parents to make the best treatment decisions.

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

The femoral facial syndrome (FFS) is a rare congenital anomaly syndrome characterized by bilateral femoral hypoplasia and facial dysmorphism. The etiology of FFS is currently unknown but maternal/gestational diabetes has been proposed as a strong risk factor for syndromic femoral hypoplasia. In affected children born to non-diabetic mothers, a genetic contribution to FFS is suspected; however, no chromosomal anomalies or gene mutations have been identified so far. Here, we report on a girl with FFS and a de novo complex chromosome rearrangement of terminal chromosome 2q37.2. Radiographs of the pelvis and lower limbs showed bilateral shortening and bowing of the femur and radiographs of hands and feet revealed a brachydactyly type E (BDE). Using high resolution array-CGH, qPCR, and FISH, we detected a ~1.9 Mb duplication in the chromosomal region 2q37.2 and a ~5.4 Mb deletion on chromosome 2q37.3 that were absent in the parents. The duplication contains six genes and the deletion encompasses 68 genes; the latter has previously been shown to cause BDE (through haploinsufficiency for HDAC4) but not femoral hypoplasia. Therefore, we propose that the duplication 2q37.2 could be causative for the femur phenotype. To the best of our knowledge, our report is the first to propose a genetic cause in a case of FFS.

[Evaluation of reparative osteogenesis of distraction regenerate of the fourth metatarsal bone in patients with brachymetatarsia]. / Otsenka reparativnogo osteogeneza distraktsionnogo regenerata chetvertoi plyusnevoi kosti u patsientov s brakhimetatarziei.

AIM: To evaluate reparative osteogenesis of the fourth metatarsal bone using X-ray and ultrasonic methods. MATERIAL AND METHODS: Six patients with fourth metatarsal bone dysplasia underwent ultrasound and X-ray examination during distraction and fixation. Data were analyzed. RESULTS: During distraction sonography assessed adequately the length of elongation, activity of bone trabecula formation, features of vascularization and organotypic reconstruction of regenerate. X-ray examination is advisable to determine the terms of device relief during fixation. CONCLUSION: Sonography is preferable during distraction for dynamic monitoring of reparative osteogenesis. X-ray examination is advisable to determine the terms of device relief during fixation.

Presentation and Treatment of Poland Anomaly.

Background: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral pectoral muscle agenesis and ipsilateral hand deformity. Methods: A comprehensive review of the medical literature on Poland anomaly was performed using a Medline search. Results: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral, simple syndactyly with ipsilateral limb hypoplasia and pectoralis muscle agenesis. Operative management of syndactyly in Poland anomaly is determined by the severity of hand involvement and the resulting anatomical dysfunction. Syndactyly reconstruction is recommended in all but the mildest cases because most patients with Poland anomaly have notable brachydactyly, and digital separation can improve functional length. Conclusions: Improved understanding the etiology and presentation of Poland anomaly can improve clinician recognition and management of this rare congenital condition.

A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family.

OBJECTIVES: NOG is an antagonist to bone morphogenetic proteins and plays an important role in proper bone and joint development. Dominant mutations in NOG may lead to a series of symphalangism spectrum disorders. In this study, we aimed to identify the genetic cause and the pathogenic mechanism of an autosomal dominant disorder with cosegregating proximal symphalangism and conductive hearing impairment in a Chinese family. METHODS: Mutation screening of NOG was performed in the affected family members by polymerase chain reaction (PCR) amplification and direct sequencing. Western blotting analysis of NOG was performed in the leukocyte samples of the family members. RESULTS: A novel p.W150C heterozygous mutation in NOG was identified cosegregating with the proximal symphalangism disorder in the family. Western blotting analysis showed that the p.W150C mutation interferes with the dimerization of the mutant NOG. CONCLUSIONS: Our results agreed with previously published results of in vitro studies and suggested that impaired dimerization of mutant NOG is an important pathogenic mechanism for the NOG-related symphalangism spectrum disorder.

Metacarpophalangeal joint locking in 3 family members with brachymesophalangy: case report.

We report painful locking of the metacarpophalangeal joint in a man, his mother, and his sister, all of whom have brachymesophalangy. Surgical excision of loose osteocartilaginous fragments relieved their symptoms. The fragments appeared to be unfused ossicles of the metacarpal head, unique to patients with brachymesophalangy.

Congenital symbrachydactyly: outcomes of surgical treatment in 120 webs.

BACKGROUND: Symbrachydactyly is defined as a combination of short fingers with syndactyly. There are few published reports estimating the incidence of symbrachydactyly. The aim of this study was to investigate the clinical features and the outcome of surgical treatment for congenital symbrachydactyly. METHODS: One hundred and twenty webs of thirty-four patients of symbrachydactyly were involved in the study. The sex ratio was 21 males/13 females. The age ranged from 1 year to 8 years, average 2.6 years. Four cases had both hands involved and 30 patients had one hand involvement. Release of the syndactylous digits webs were completed by one surgical procedure in 14 cases and more than one surgical procedure in 20 cases; 3 to 6 months between the procedures. In the meantime, some of the associated hand deformities were treated. RESULTS: Postoperative follow-up time was 10 to 18 months, average 12 months. All the fingers involved in this study were separated successfully. However, 6 fingers had scar tissue contracture and 8 had web scar adhesion. All complications needed further surgical treatment. Parents of 94.1% of the patients were satisfied with the overall function of the hand, and 76.5% were satisfied with the cosmetic appearance of hand. CONCLUSIONS: The combination of syndactyly and brachydactyly is the main clinical feature in symbrachydactyly. Separation of the digital webs can greatly improve the function of the hand. However, more work needs to be done to improve the cosmetic appearance of the hand.

Liebenberg syndrome: case report and insight into molecular basis.

We report a case of Liebenberg syndrome in a 6-year-old girl, including the clinical, radiological, angiographic, and operative findings. We note that the forearm and hand malformations have similarities to leg and foot anatomy. Our observations may help provide insight into the etiology of this unusual condition.

A palmar approach for insertion of a free, nonvascularized phalangeal transfer.

Free nonvascularized phalangeal transfer from a toe to congenitally hypoplastic digits, is an established procedure in the repertoire of digit reconstruction. The hypoplastic digit is frequently flexed, due to shortage of palmar soft tissues. The phalanx must be transferred intact, with a complete periosteal covering. A new technique of incision and dissection is described utilizing a palmar V approach, closed after skin advancement, as a Y. This permits ample visualization of the digital envelope to receive the phalanx, protection under direct vision of the digital bundles, and simultaneous correction of the deficient palmar skin, without tension.

Nonincisional osteotomy for gradual lengthening by callus distraction in the hand and foot.

Gradual lengthening by distraction osteogenesis is widely used for brachydactyly. The most frequent postoperative complaint of the patients treated with this method is the appearance of the scar caused by the skin incision for the osteotomy, which is an integral technique of distraction osteogenesis. A nonincisional approach to osteotomy would reduce the dorsal scarring. Gradual lengthening by callus distraction with nonincisional osteotomy was performed in 14 digits. The mean gain in length was 14.3 mm (10-19 mm). Of 14 digits, 13 digits achieved the target length and sufficient bone consolidation and 1 digit showed early consolidation. There was no case in which complications occurred because of the drilling. Nonincisional osteotomy for callus distraction in the hand and foot reduced dorsal longitudinal scarring and achieved good cosmetic results as compared with an ordinary osteotomy involving skin incision.