We present a rare case of a pediatric patient diagnosed with Gaucher disease, a lysosomal storage disorder, co-occurring with hallux duplication and syndactyly, congenital foot malformations. The patient exhibited extreme and uncommon manifestations of Gaucher disease, including massive splenomegaly and severe osteoporosis localized to the affected extremities, which complicated the treatment of the foot deformities. This case is notable due to the unique interaction between two genetically distinct conditions. We explore the clinical implications, treatment challenges, and potential genetic factors that may underlie the co-existence of these rare disorders. This case highlights the importance of comprehensive diagnosis and careful management when dealing with complex, overlapping conditions.

Syndactyly-polydactyly-ear lobe (SPEL) syndrome is a rare, genetic, congenital limb malformation syndrome that can be characterized by 6 different human phenotypes. We report a rare case of SPEL syndrome in a young woman with right earlobe malformations and asymptomatic preaxial polydactyly with partial duplication of the right hallucal distal phalanx without a supernumerary toe. Unique aspects of our patient's clinical presentation include lack of a supernumerary digit with a bifurcated distal phalanx, associated earlobe malformations, adult age, and no reported familial history of SPEL syndrome. Syndactyly-polydactyly-ear lobe syndrome has not been reported in the literature since 1976, making the present case particularly noteworthy.Level of Evidence: Level 5, Case Report.

Foot-syndactyly has long been managed through conventional surgical procedures, each having its own distinct advantages and drawbacks. While these methods, which do not require skin grafts, exhibit a lower incidence of long-term complications, they lead to undesirable scarring on the dorsal side of the foot and reduced patient satisfaction. In this study, we introduce an innovative technique involving an intermetatarsal plantar flap, supported by an anatomical investigation and clinical application. Eight freshly preserved lower limbs were injected with colored latex to examine the cutaneous vessels on the plantar surface, a skin-flap was designed in an elliptical shape to address first web conjoined toes. The flap was extended from the center of each affected ray measuring ~30% of the sole's length. Using the mentioned novel approach, a flap was created and dorsally extended with a straight incision to release bilateral simple foot-syndactyly in an 8-year-old child presented with Apert's Syndrome. We identified cutaneous branches originating either from the medial plantar vessels or the lateral proper artery of the hallux. On average, the mean number of cutaneous branches found over the first intermetatarsal web spaces was 5.8 (ranging from 5 to 8) most of them originating from medial plantar vessels with a mean of 5.1 branches (range 4-6) while proper lateral great-toe digital artery provided a mean of 0.6 branches (range 0-2). Intra-operatively, in our patient, advancing the plantar flap ensured complete coverage of the commissure, obviating the necessity for skin grafts. Incisions healed uneventfully and a wide first web was obtained. Over a 15 months follow-up, no complications were observed. Our findings suggest that the skin-graftless first web release of syndactyly using a plantar intermetatarsal flap is a reliable and straightforward procedure with good cosmetic results, offering a promising alternative to conventional techniques. Therapeutic IV.

Furnariida (i.e. ovenbirds, woodcreepers and antbirds) cover diverse ecologies and locomotor habits, ranging from strictly terrestrial to climbing birds, with different degrees of acrobatic performances. We know that this variety of locomotor modes is linked to different limb morpho-functional adaptations in other climbing clades of birds, such as woodpeckers and nuthatches. Here, we link the morphological variations to ecological categories, such as different locomotor habits and a gradient of acrobatic performances, in a phylogenetically informed analysis. We used a high-density three-dimensional (3D) geometric morphometric approach on foot bones (tarsometatarsus and all toes) of 55 specimens from 39 species of Furnariida. We found a significant correlation between acrobatic performances and foot bone shapes, partly explained by the phylogenetic relationship between species. Dendrocolaptidae show specific anatomical features, linked to their acrobatic locomotor habits. More specifically, we found that: (1) foot bones are more robust amongst climbing Furnariida, (2) the spread between toes is wider amongst highly acrobatic Furnariida, (3) dermal syndactyly between digits II and III is linked to special osteological features interpreted as functional osteological syndactyly in woodcreepers (tail-assisted climbers) and (4) the hallux claw is straighter than other claws in climbing Furnariida. Our study demonstrates that climbing Furnariida evolved common foot adaptations with subtle phenotypic variations depending on their climbing performances, refining our understanding of how evolution shapes interactions amongst structure, function and ecological traits.

Longitudinal epiphyseal bracket of the first metatarsal, also known as first enclosed metatarsal, is a rare congenital disorder characterized by an abnormal development in the length of the first metatarsal ray because of the asymmetric presence of a longitudinal epiphyseal bracket. This causes interruption in the lengthways development of the affected bone, which becomes squat and short, with a trapezoidal or triangular shape, leading to a hallux varus deformity. First enclosed metatarsal occurs in 2% to 14% of all congenital defects in the hands and feet; with bilateralism in 75% of cases and a greater incidence in male patients. The deformity is classified as a differentiation defect; it is frequently associated with abnormalities such as syndactyly or polydactyly. There are different surgical treatments reported in the literature. Most of them are aimed at the excision of the epiphyseal bracket before complete skeletal maturity and frequently in the first year of life to promote a normal lengthways growth of the bone. In this study, the authors present three cases of bilateral first enclosed metatarsal in which the surgical treatment, aimed at lengthening the first metatarsal ray by using the Penning Minifixator, was instead carried out at the end of growth. This different surgical approach allowed the planning of a surgical operation involving both the skeletal structures and the surrounding soft tissue.