Associated anomalies in cases with congenital clubfoot

Abstract

Congenital clubfoot CTEV is a common congenital anomaly, its etiology is unclear and its pathogenesis is controversial. Cases with CTEV often have other non‐CTEV associated congenital anomalies. The purpose of this study was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with CTEV were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population‐based registry of congenital malformations. Of the 504 cases with CTEV, representing a prevalence of 13.02 per 10,000, 107 (21.2%) had associated anomalies. There were 31 (6.1%) cases with chromosomal abnormalities, and 21 (4.2%) non‐chromosomal recognized dysmorphic conditions including syndromes: 6 arthrogryposis multiplex congenita, 2 22q11.2 microdeletion, and one fetal alcohol syndrome. Fifty‐five (10.9%) of the cases had nonsyndromic multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the central nervous, the urinary, the orofacial, and the musculoskeletal systems were the most common other anomalies in the cases with MCA. The anomalies associated with CTEV could be classified into a recognizable malformation syndrome in 52 of the 107 cases (48.6%) with associated anomalies. This study included special strengths: it is population‐based, each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, one of five cases, emphasizes the need for a screening for other anomalies in cases with CTEV.

Talipes Equinovarus (TEV) and VACTREL Associated Anomalies: Narrative Literature Review

“…9 In 2019, study in Paris stated that among 504 cases with CTEV, 397 had isolated CTEV and 107 cases had at least one associated anomaly. 8 This concurrent anomalies can be group into VACTERL: 28 and hydrocephaly. 9 The location of the myelomeningocele ranged from the thoracic to sacral levels but predominantly involved the lumbosacral spine.…”

“…9 At least 13 population had a cleft palate and 7 population had cleft lip and/or palate from 55 subject of France population study in 1979 until 2007. 8 Sub-saharan African cohort study said, the possible varying genetic act as causes the orofacial cleft and TEV could occur in some individuals. 38 5.…”

“…Renal and urinary system anomalies; The presence of renal and urinary system anomalies in combine with TEV was quite rare, it was in the fourth place of the most common affected organ according to the large population study in France. 8 Most of them was a complex syndrome such as cystic dysplasia of kidney, multiple vas deferens with polyorchidism in 11-year boy including a left polydactyly clubfoot, and also some lethal case was reported in siblings back then in 1978 who came from nonconsanguineous father and mother. 8,39,40 This underlined the importance of prenatal screening and diagnosis of several congenital malformation nowadays.…”

“…8 Most of them was a complex syndrome such as cystic dysplasia of kidney, multiple vas deferens with polyorchidism in 11-year boy including a left polydactyly clubfoot, and also some lethal case was reported in siblings back then in 1978 who came from nonconsanguineous father and mother. 8,39,40 This underlined the importance of prenatal screening and diagnosis of several congenital malformation nowadays. 6.…”

“…many cases, clubfoot is often idiopathic and isolated but the prevalence data shows that TEV with other anomalies were between 10.8 and 48.5% as does the proportion and the type of associated anomalies reported. 8 A postnatal and autopsy study of 44 fetus with TEV, found that 19 fetuses (43.3%) was isolated TEV and complex TEV in 25 fetuses (56.8%), in which complex TEV the associated abnormalities consist of CNS involvement in 13/25 (52.0%); musculoskeletal defect in 7/25 (28.0%); thoracic abnormalities in 3/25 (12.0%); and one case of each tumour and hydrops fetalis. 9 This review aimed to discuss the mechanism of CTEV, the following VACTERL associated anomalies (costo-vertebral segmentation and neural defects, anal atresia, cardiac malformation, trachea-esophageal fistula/atresia and orofacial defect, renal and urinary system anomalies, limb anomalies) together with CTEV and the orthopaedic managements in CTEV patients.…”