We report polymelia and polydactyly in an immature White Stork (Ciconia ciconia). Polymelia and polydactyly are unusual leg malformations and have been rarely recorded in birds. To our knowledge there is no study indicating the two cases observed in the same bird. We observed a White Stork which has two pairs of fused legs, with a total of nine and 10 toes on left and right fused legs respectiv...

The following case report describes the diagnosis and surgery of bilateral polydactyly of unknown origin in a colt. A 7-month-old Berber colt was referred for cosmetic and curative excision of supernumerary digits. Radiographic examination revealed bilateral polydactyly and welldeveloped first carpal bones. Surgery consisted of an osteotomy of both second metacarpal bones combined with an amput...

Joubert's syndrome is indeed a rarity in clinical and radiological practice with a myriad of accompanying anomalies. Figure 1. Clinical photos of the patient showing post-axial polydactyly in the upper and lower limbs (A, B) and broad flat nasal bridge (C). Herein we present a case of an eight-month-old female infant who presented with delayed milestones, nystagmus and post-axial polydactyly (F...

Two sibs are described, the first of whom presented the classic Meckel syndrome triad of encephalocele, postaxial polydactyly, and characteristic renal cystic changes. The second sib had none of these abnormalities, but did show urethral atresia and preaxial polydactyly, two features previously described in some patients with Meckel syndrome. The two cases illustrate both the wide phenotypic sp...

Objective: To describe a case of Bardet-Biedl syndrome involving renal failure and retinal dystrophy. Case Presentation and Intervention: A 50-year-old female patient presented to the emergency service with uremic symptoms and metabolic acidosis. Polydactyly, retinitis pigmentosa, obesity, strabismus, nistagmus and renal failure were found. Because she had end-stage renal failure, hemodialysis ...

Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In order to give guidelines for diagnostics and referral to a clinical geneticist, we provide an overview of the presentation using a literature review and our own patient population. Patients and methods - The literature review wa...

To the Editor : Mutations of the GLI3 gene lead to a wide variety of phenotypes such as Greig cephalopolysyndactyly (GCPS), Pallister–Hall syndrome (PHS), postaxial polydactyly (PAP) types A/B, and preaxial polysyndactyly (PPD) type IV (1–7). The main clinical features of these phenotypes are summarized in Table 1. The GLI3 protein may be divided into three parts (Fig. 1). The part towards the ...