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Cleft foot: A case report and review of literature.

ABSTRACT: BACKGROUND:Cleft foot is a very rare congenital anomaly, which is characterized by central rays deficiency of the foot. It is also known as split foot or ectrodactyly of the foot, and it is very often combined with splitting of the hands. The defect develops due to insufficient activity of the median apical ectodermal ridge, which leads to an increase in cell death or a decrease in cell proliferation. Due to the rarity of the pathology, there are few papers on the surgical treatment of this congenital foot disease, and publications to date concern the treatment of children. CASE SUMMARY:We present a clinical case of congenital splitting of the feet and hands in a 31-year-old woman and a long-term result of foot treatment using the minimal arrangement of the Ilizarov apparatus. The patient had paternal inheritance of the trait. After the surgical treatment, cosmetic view and functional condition of the foot were improved and persisted two years after intervention. There were no complications in the treatment process. CONCLUSION:The possibility of dosed control and stable fixation of the foot rays made it possible to create favorable conditions for the healing of the central wound and the closure of the segment splitting without complications. The long-term outcome of the treatment of foot congenital splitting using the proposed Ilizarov apparatus arrangement has shown its effectiveness. Our approach should be considered as an option of treatment in similar cases.

SUBMITTER: Leonchuk SS

PROVIDER: S-EPMC7063450 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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Cleft foot: A case report and review of literature.

Leonchuk Sergey S SS Neretin Andrey S AS Blanchard Anthony J AJ

World journal of orthopedics 20200218 2

<h4>Background</h4>Cleft foot is a very rare congenital anomaly, which is characterized by central rays deficiency of the foot. It is also known as split foot or ectrodactyly of the foot, and it is very often combined with splitting of the hands. The defect develops due to insufficient activity of the median apical ectodermal ridge, which leads to an increase in cell death or a decrease in cell proliferation. Due to the rarity of the pathology, there are few papers on the surgical treatment of t ...[more]

PMID: 32190557

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Project description:Objective: The aim of the present study is to explore the clinical and genetic characteristics of 3p deletion syndrome to improve clinicians' understanding of the disease. Methods: The clinical manifestations, process of diagnosis and treatment, and genetic characteristics of an individual case of 3p deletion syndrome were analyzed. CNKI, Wanfang Data, and the Biomedical Literature Database (PubMed) were searched. The search time limit, using "3p deletion syndrome" and "BRPF1" as keywords, was from the creation of the database up to June 2020. Related data were reviewed. Results: The proband was a male child with general developmental and intellectual disabilities, special facial features and congenital heart disease. The child was the parents' first pregnancy and first born. Gene microarray analysis showed a 10.095 Mb deletion in the 3p26.3-p25.3 region, resulting in a heterozygous mutation of the BRPF1 gene; thus, the patient was diagnosed with 3p deletion syndrome. At the time of diagnosis, the child was 1 year of age and was responding to comprehensive rehabilitation training. A total of 29 well-documented cases were found in the literature, of which 19 cases had an onset within 1 year of birth, and mainly manifested with mental and motor development disabilities and abnormal facial features, with different gene deletions, depending on the size and location of the 3p deletion. Conclusion: The genetic test results of the child in this study indicated a heterozygous deletion of the BRPF1 gene on the short arm of chromosome 3, which was a unique feature of this study, since it was rarely mentioned in other reports of 3p deletion syndrome. The clinical phenotype of this syndrome is complex as it can include intellectual and motor development backwardness, low muscle tone, certain abnormal facial features (low hairline, bilateral ptosis, widely spaced eyes, a forward nose, left ear auricle deformity, a high-arched palate, a small jaw), and the deformation of systems such as the gastrointestinal tract and the urinary tract malformation or symptoms of epilepsy. As clinical manifestations can be relatively mild, the syndrome is easy to miss or misdiagnose. Clinical workers need to be aware of this disease when they find that children have special features, such as stunted growth, low muscle tone or ptosis, and it needs to be diagnosed through genetic testing. Most children are able to develop certain social skills after rehabilitation treatment.

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Cleft foot: A case report and review of literature.

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Cleft foot: A case report and review of literature.

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