Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

Nails are one of the important accessory structures of the skin. They are hard, protective structures that cover the dorsal surface of the distal phalanges of fingers and toes. Nails are composed of specialized keratinized cells and serve various functions, including protection, sensation, and manual dexterity.
The main components of a nail include the following.
Nail Plate: The nail plate is the visible portion of the nail that extends beyond the fingertips or toes. It is a hard, translucent...

The lateral view of the cranium is dominated by temporal, sphenoid, and ethmoid bones.
The temporal bone forms the lower lateral side of the skull. The temporal bone is subdivided into several regions. The flattened upper portion is the squamous portion of the temporal bone. Below this area and projecting anteriorly is the zygomatic process of the temporal bone, which forms the posterior portion of the zygomatic arch. Posteriorly is the mastoid portion of the temporal bone. Projecting...

The radius is longer of the two bones that make up the human antebrachium or forearm. At the proximal end, the radius articulates with the capitulum of the humerus and the radial notch of the ulna to form the elbow joint. At the distal end, the radius articulates with the ulna via the ulnar notch, forming the distal radioulnar joint. Distally, the radius also attaches to the carpal wrist bones (scaphoid and lunate) to form the radiocarpal joint.
The radius has a nail-shaped head, and a short...