Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis

Clinicians and scientists interested in developmental biology have viewed preaxial polydactyly (PPD) and longitudinal preaxial ray deficiency (LPAD) as two different entities. Point mutations and duplications in the zone of polarizing activity regulatory sequence (ZRS) are associated with anterior ectopic expression of Sonic Hedgehog (SHH) in the limb bud and usually result in a PPD phenotype. However, some of these mutations/duplications also have LPAD in the phenotype. This unusual PPD-LPAD association in ZRS mutations/duplications has not been specifically reviewed in the literature. The author reviews this unusual entity and gives insights regarding its pathogenesis

A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype

Synpolydactyly type 1 (SPD1, OMIM 186000) is inherited as autosomal dominant and is caused by HOXD13 mutations. The condition is rare and is known for its phenotypic heterogeneity. In the homozygous state, the phenotype is generally more severe and is characterized by three main features: a more severe degree of syndactyly, a more severe degree of brachydactyly, and the frequent loss of the normal tubular shape of the metacarpals/metatarsals. Due to the phenotypic heterogeneity and the phenotypic overlap with other types of syndactyly, no pathognomonic feature has been described for the homozygous phenotype of SPD1. In the current communication, the author reviews the literature on the phenotypes of SPD1 in homozygous patients. The review documents that not all homozygous patients show a severe hand phenotype. The review also defines the “relatively long and medially deviated big toe with/without cupping of the forefoot” as a pathognomonic feature in the phenotype. Illustration of this feature is done through a demonstrative clinical report in a multigeneration family with SPD1 and HOXD13 polyalanine repeat expansion. Finally, the pathogenesis of the clinical features is reviewed

sj-pdf-1-jhs-10.1177_17531934231167061 - Supplemental material for My journey in hand surgery: combining patient care, clinical and basic science research

Supplemental material, sj-pdf-1-jhs-10.1177_17531934231167061 for My journey in hand surgery: combining patient care, clinical and basic science research by Mohammad M. Al-Qattan in Journal of Hand Surgery (European Volume)</p

Type I locking of the metacarpophalangeal joint: A case report

Introduction: Type I locking of the metacarpophalangeal joint (MCPJ) is rare and is characterized by loss of extension at the MCPJ with full flexion of all joints of the digit. The condition is usually seen in the index and middle fingers when the normal osseous prominence or degenerative osteophytes of the radial condyle of the metacarpal head catches the accessory collateral ligaments of the MCPJ. Presentation of case: We report on a case of Type I locking of the MCPJ affecting the index finger. The case was unusual because it might have been related to repeated stress while opening caps of specimen bottles in the laboratory. Furthermore, the impingement of the radial condyle of the metacarpal was to the sesamoid bone, and not to the collateral ligaments of the MCPJ. Finally, management was done by excision of the sesamoid bone rather than trimming of the prominence of the radial condyle of the metacarpals head. Discussion: Locking of the metacarpophalangeal joint (MCPJ) should be viewed as two different entities: The “locked MCPJ with further flexion possible” (Type I locking) and the “locked MCPJ with further flexion not possible” (Type II locking). Once the type of MCPJ locking is diagnosed clinically, radiological testing (X-rays, CT scan, MRI) may be done to direct further management to the cause of locking. Conclusion: We present an unusual case of Type I locking of the MCPJ affecting the index finger