OBJECTIVE: To determine whether preservation of blood supply to the index metacarpophalangeal joint decreases the rate of physeal arrest.
METHODS: A retrospective review of 41 pollicized digits in 35 patients with 2-year minimum radiographic follow-up was conducted at a single institution. Other complications evaluated included nonunion at the pollicized digit base and clinical instability at the new carpometacarpal joint. Findings were compared to historical controls, which were performed by our group prior to routine identification and sparing of the metacarpophalangeal joint blood supply. No other modifications to surgical technique were made between the previous and current patient cohorts.
RESULTS: Two pollicized digits in two different patients had radiographic evidence of physeal arrest, one of which was partial and the other complete, for an arrest rate of 4.9%. This was significantly less than the arrest rate in our historical cohort of 24.7% (21 of 85 patients). Five patients did not have radiographic bony union at the base of the index metacarpal, but only one patient had clinical instability at the new carpometacarpal joint.
CONCLUSIONS: Significantly fewer patients who underwent index finger pollicization with preservation of the metacarpophalangeal joint blood supply went on to develop physeal arrest when compared to patients who underwent pollicization prior to adoption of this technique. This finding suggests that sparing of the physeal blood supply is preventative against proximal phalanx physeal arrest.
METHODS: Therapeutic IV.

Radial dysplasia (RD) is a congenital upper limb birth defect that presents with changes to the upper limb anatomy, including a shortened or absent radius, bowed ulna, thumb malformations, a radially deviated hand and a range of muscle and tendon malformations, including absent or abnormally shaped muscle bundles. Current treatments to address wrist instability caused by a shortened or absent radius frequently require an initial soft tissue distraction intervention followed by a wrist stabilisation procedure. Following these surgical interventions, however, recurrence of the wrist deviation remains a common, long-term problem following treatment. The impact of the abnormal soft connective tissue (muscle and tendon) anatomy on the clinical presentation of RD and the complications following surgery are not understood. To address this, we have examined the muscle, fascia and the fascial irregular connective tissue (ICT) fibroblasts found within soft connective tissues, from RD patients. We show that ICT fibroblasts isolated from RD patients are functionally abnormal when compared to the same cells isolated from control patients and secrete a relatively disordered extracellular matrix (ECM). Furthermore, we show that ICT fibroblast dysfunction is a unifying feature found in RD patients, even when the RD clinical presentation is caused by distinct genetic syndromes.

UNASSIGNED: Radial dysplasia, also termed radial club hand is an abnormality along the longitudinal axis of the hand characterized by hypoplasia or aplasia of radial structures. Surgery that centralize the wrist on the distal end of the ulna gives quite good results in terms of anatomical recovery but affecting range of motion of the wrist and fingers, limbs length. We conducted this study to evaluate the outcome of serial casting followed by centralization at our institution.
UNASSIGNED: We conducted a prospective study involving 20 pediatric patients with 25 limbs affected by Bayne Types III and IV radial dysplasia, with an average follow-up period of 4.2 years. Each limb underwent progressive soft tissue stretching via serial casting, followed by centralization. Clinical and radio-graphic data were collected at surgery and during follow-up assessments.
UNASSIGNED: The study achieved an average correction of 60° in radial deviation, with a decrease in wrist range of motion from 79° to 28° over the follow-up period. Finger mobility showed increased stiffness. Ulnar length recovery reached 57% of the normal contra-lateral side. Final results, based on the Bayne and Klug criteria, revealed that 24 out of 25 hands (96%) exhibited good or satisfactory outcomes.
UNASSIGNED: Early intervention employing gradual corrective casting followed by centralization is an effective treatment for radial dysplasia in children, consistently resulting in good or satisfactory outcomes. However, this approach entails a trade-off with reduced wrist and finger range of motion and potential implications for limb growth.

The present study aimed to determine the inheritance pattern and genetic cause of congenital radial hemimelia (RH) in cats.
Clinical and genetic analyses were conducted on a Siamese cat family (n = 18), including two siblings with RH. Radiographs were obtained for the affected kittens and echocardiograms of an affected kitten and sire. Whole genome sequencing was completed on the two cases and the parents. Genomic data were compared with the 99 Lives Cat Genome data set of 420 additional domestic cats with whole genome and whole exome sequencing data. Variants were considered as homozygous in the two cases of the siblings with RH and heterozygous in the parents. Candidate variants were genotyped by Sanger sequencing in the extended pedigree.
Radiographs of the female kitten revealed bilateral absence of the radii and bowing of the humeri, while the male kitten showed a dysplastic right radius. Echocardiography suggested the female kitten had restrictive cardiomyopathy with a positive left atrial-to-aortic root ratio (LA:Ao = 1.83 cm), whereas hypertrophic cardiomyopathy was more likely in the sire, showing diastolic dysfunction using tissue Doppler imaging (59.06 cm/s). Twenty-two DNA variants were unique and homozygous in the affected kittens and heterozygous in the parents. Seven variants clustered in one chromosomal region, including two frameshift variants in cardiomyopathy associated 5 (CMYA5) and five variants in junction mediating and regulatory protein, P53 cofactor (JMY ), including a missense and an in-frame deletion.
The present study suggested an autosomal recessive mode of inheritance with variable expression for RH in the Siamese cat family. Candidate variants for the phenotype were identified, implicating their roles in bone development. These genes should be considered as potentially causal for other cats with RH. Siamese cat breeders should consider genetically testing their cats for these variants to prevent further dissemination of the suspected variants within the breed.

Radial longitudinal deficiency (RLD) is commonly associated with thumb hypoplasia. The association between RLD and radial polydactyly (RP) is uncommon, but case reports or case series have been reported. We report our experience of managing patients with this association. A total of 97 patients with RLD were seen in our department, of which six were children with concomitant RLD and RP. Four children had both RLD and RP in the same limb; of them, three also had RLD in the contralateral limb. The mean age at presentation was 11.6 months. Awareness of this association alerts the clinician to look for RLD in the presence of RP and vice versa. This case series supports recent experimental and clinical evidence that RP and RLD may be part of the same developmental spectrum. Further studies may guide its inclusion as a possible new category in the Oberg-Manske-Tonkin (OMT) classification of congenital upper-limb anomalies.Level of evidence: IV.

This review article provides a comprehensive overview of thalidomide upper limb embryopathy including updates about its pathogenesis, a historical account of the management of the paediatric thalidomide patient, experience with management of the adult patient, as well as creating awareness about early onset age-related changes associated with limb differences. Despite its withdrawal from the market in November 1961, novel discoveries have meant thalidomide is licensed again and currently still in use to treat a variety of conditions, including inflammatory disorders and some cancers. Yet, if not used safely, thalidomide still has the potential to cause damage to the embryo. Recent work identifying thalidomide analogues that retain clinical benefits yet without the harmful effects are showing great promise. Understanding the problems thalidomide survivors face as they age can allow surgeons to support their unique healthcare issues and translate these principles of care to other congenital upper limb differences.

Radial Ray Defect (RRD) is a rare disorder, and the etiology of this disorder is still under discussion. RRD is associated with many medical conditions for which prenatal counselling is of paramount importance. Any association with the family history is still unknown. The patient is a 16-year-old female who came to the orthopaedic clinic complaining of tingling and weakness in the right forearm. On examination, there was a gross deformity in the right forearm with radial deviation of the hand. An X-ray revealed radial ray defect type-2. She previously had a history of perinatal infection during early childhood. Surgery was successfully achieved, and positive results were accomplished. Radial Ray Defect can be focal or associated with other clinical manifestations. The timing of antenatal ultrasound for detecting this musculoskeletal anomaly is crucial. When RRD is associated with other syndromes, counselling to the parents about the quality of life and morbidity comes into play. Treatment is primarily surgical.

Pollicization has been a very successful procedure in the treatment of specific types of hypoplastic thumb. Although much has remained the same since early descriptions of the procedure in the 1800s and 1900s, refinements over the years have made it safer and more predictable. Over the years at our institution we have studied, modified and refined our incisions to produce a new thumb that is aesthetically pleasing with excellent function. We present our technique for pollicization along with pearls and pitfalls we have discovered.

OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia.
METHODS: A 27-year-old woman underwent amniocentesis at 18 weeks of gestation because of club hands on fetal ultrasound. The internal organs of the fetus were normal. Amniocentesis revealed a karyotype of 47,XY,+mar [13]/46,XY [11]. The parental karyotypes were normal. Simultaneous array comparative genomic hybridization (aCGH) analysis of the DNA extracted from uncultured amniocytes revealed the result of arr 2q11.1q12.1 (95,529,039-102,825,556) × 3.0 [GRCh37 (hg19)]. The pregnancy was terminated at 20 weeks of gestation, and a malformed fetus was delivered with isolated bilateral radial dysplasia. The cord blood had a karyotype of 47,XY,+mar[24]/46,XY[16]. Polymorphic DNA marker analysis of the DNAs extracted from umbilical cord and parental bloods excluded uniparental disomy for chromosome 2. Metaphase fluorescence in situ hybridization analysis confirmed an sSMC derived from chromosome 2q11.1-q12.1 in cultured amniocytes.
CONCLUSIONS: High-level mosaicism for an sSMC derived from chromosome 2q11.1-q12.1 can be associated with fetal abnormalities.

For centuries, various techniques have been described to stabilize the carpus on the ulna in radial dysplasia to achieve a straight wrist, in the belief that it is better for function and cosmesis. Apart from ulnocarpal fusion, none had succeeded in preventing recurrence of radial deviation. Ulnocarpal fusion, however, carries the risk of shortening an already shortened forearm by damaging the epiphysis. Fingers are often stiff in radial dysplasia, and therefore a straight wrist may actually limit function. Formal assessment of the appearance in operated versus unoperated wrists remain inconclusive. This article challenges the dogma that a straight wrist should be the ideal goal in radial dysplasia. The optimum management of this condition remains debatable.