Surgical treatment of Wassel type Ⅵ radial polydactyly with convergent deformity is technically challenging. We found that 17 of our cases exhibited cartilaginous connections between the bases of the radial and ulnar thumb's metacarpals. To better assess the anatomic features and guide surgical design, we used X-ray and MRI imaging to characterize the adduction of the ulnar metacarpal, radial subluxation of the metacarpophalangeal joint, narrowness of the first web, and thenar muscle distribution. Ulnar deviation of the metacarpal bases was 36.18±11.27˚, metacarpophalangeal joint radial deviation was 48.88±16.03˚, and intermetacarpal angle was -1.53±7.79˚. The first web measured approximately two-thirds the size of the contralateral side. Two different types of composition of the carpometacarpal joints and a transverse muscle was described. Treatment involved osteotomy of the first metacarpal's base, release of the transverse tissue, reconstruction of the thenar muscle attachment points, and reconstruction of the first-index web space with multiple interphalangeal skin flaps. Postoperative JSSH scores (evaluation sheet for polydactyly of the thumb presented by JSSH Congenital Hand Committee) were excellent (16/17). Web space size was similar to that on the opposite side and thumb alignment was good. No cases required additional surgical revisions. Furthermore, the risk of misclassifying Wassel type VI polydactyly is associated with convergent deformities, which may be caused by the limitations of X-ray imaging. Bifurcation of the first metacarpal is the initiating factor of the deformity. In contrast, dislocation of the metacarpophalangeal joint and narrowness of the first web are caused by bone and soft tissue factors. Therefore, performing osteotomy followed by soft tissue release and reconstruction can help achieve desirable results. LEVEL OF EVIDENCE: IV.

To analyze the phenotype and genotype of patients with congenital hypopituitarism (CH) and pathogenic (P) GLI2 variants. A large cohort of patients with hypopituitarism was screened for GLI2 variants using a next-generation sequencing panel. Genotype-phenotype correlations were then assessed using GENHYPOPIT phenotypic data. Of the 39 GLI2 variants identified in 717 index cases, 17 were classified as pathogenic and likely pathogenic. All these GLI2 variants were identified in 23 patients (17 index cases and 6 relatives) with associated pituitary stalk interruption syndrome or extrapituitary manifestations. GLI2 variants were the most frequently identified genetic cause in patients with syndromic hypopituitarism (68%): 88% (15/17) of mutations were truncating variants, and 45% were de novo. Most patients with a GLI2 variant (21/23, 91%) had hypopituitarism, including 21.7% (5/23) presenting isolated growth hormone deficiency. Two patients had Kallmann syndrome. Pituitary morphological abnormalities were present in 84% of the patients with P GLI2 variants (index cases and affected relatives). The remaining signs included neurocognitive disorders (38%), hexadactyly (27%), cardiac septal defects, and renal/vesical abnormalities. A possible digenic origin (GLI2/HESX1) is proposed in one family. In this large multicentric international cohort, GLI2 was the most frequently identified genetic cause of syndromic CH with constant association of pituitary stalk interruption syndrome or extrapituitary clinical features. In addition to polydactyly and neurocognitive disorders, cardiac and renal abnormalities were also frequently observed and should be investigated further. The variable expression of GLI2-associated phenotypes justifies further research in this area.

Polydactyly, particularly of the index finger, remains an intriguing anomaly for which no specific gene or locus has been definitively linked to this phenotype. In this study, we conducted an investigation of a three-generation family displaying index finger polydactyly. Exome sequencing was conducted on the patient, with a filtration to identify potential causal variation. Validation of the obtained variant was conducted by Sanger sequencing, encompassing all family members. Exome analysis uncovered a novel heterozygous missense variant (c.1482A>T; p.Gln494His) at the zinc finger DNA-binding domain of the GLI3 protein within the proband and all affected family members. Remarkably, the variant was absent in unaffected individuals within the pedigree, underscoring its association with the polydactyly phenotype. Computational analyses revealed that GLI3 p.Gln494His impacts a residue that is highly conserved across species. The GLI3 zinc finger DNA-binding region is an essential part of the Sonic hedgehog signaling pathway, orchestrating crucial aspects of embryonic development through the regulation of target gene expression. This novel finding not only contributes valuable insights into the molecular pathways governing polydactyly during embryonic development but also has the potential to enhance diagnostic and screening capabilities for this condition in clinical settings.

The aim of the study is to assess the readability of online patient education materials (PEMs) for congenital hand differences. The top 10 online, English-language PEMs for 10 conditions (polydactyly, syndactyly, trigger finger/thumb, clinodactyly, camptodactyly, symbrachydactyly, thumb hypoplasia, radial dysplasia, reduction defect, and amniotic band syndrome) were compiled and categorized by source and country. Readability was assessed using 5 tools: Flesch Reading Ease Score (FRES), Flesch-Kincaid Grade Level (FKGL), Gunning Fog Index (GFI), Coleman-Liau Index (CLI), and Simple Measure of Gobbledygook Index (SMOG). To account for the potential effect of each condition's name in the aforementioned formulas, the analysis was repeated after replacing the name with a monosyllabic word/s. The mean readability scores of the 100 PEMs were FRES 56.3, where the target was ≥80, FKGL 8.8, GFI 11.5, CLI 10.9, and SMOG 8.6, and the median grade score was 9.8, where the target grade was ≤6.9. Following adjustment, all readability scores improved significantly (P < .001). Postadjustment scores were FRES 63.8, FKGL 7.8, GFI 10.7, CLI 9.1, and SMOG 8.0, and the median grade score was 8.6. Only 1 webpage met the target level using all tools. Two-sample t test for country of publication (the United States and the United Kingdom) demonstrated that PEMs originating from the United Kingdom were easier to read using the preadjustment CLI (P = .009) and median grade metrics (P = .048). A 1-way analysis of variance revealed no influence of condition or source on readability. Most online PEMs for congenital hand differences are written above the recommended reading level of sixth grade, even when adjusted for the effect of the condition's name.

The Wassel classification is commonly used for cases of radial polydactyly but has not been used to predict surgical outcomes. This study aimed to investigate the predictive factors of surgical outcomes using the Wassel type and symmetry of duplication. Forty-five patients with 47 radial polydactylies were reviewed using the Japanese Society for Surgery of the Hand (JSSH) scores 4.6 years after minor thumb excision and reconstructive surgery. The symmetry index was defined as the metaphyseal width ratio of the minor thumb to the dominant thumb. The relationships between the JSSH scores and operation age, sex, side, follow-up duration, Wassel type, symmetric index, divergent angle, and joint angulation were analyzed by linear regression. The mean JSSH score of the 47 thumbs was 18.3 points (range, 15-20). Five thumbs had fair or poor outcomes (scores <17), all of which were Wassel type IV. The hypoplastic type had a better JSSH score (19.4) than other Wassel types. The symmetric index had a negative relationship with JSSH scores, especially for Wassel type IV (r=-0.68, P =0.001). Linear regression revealed that the symmetric index was the only independent factor significantly associated with JSSH scores among Wassel type IV polydactylies ( P <0.05). The receiver operating characteristic curve suggested a symmetric index <0.74 could predict good or excellent outcomes. The symmetry of the 2 duplicated thumbs is an important factor for surgical outcomes. The Wassel type IV polydactylies with a symmetric index >0.74 are at greater risk of fair or poor outcomes after excision and reconstruction, and further studies are warranted to confirm whether the Bilhaut-Cloquet procedure is a good choice. Level IV-Case-control study.