Prenatal diagnosis of clinodactyly and its association with genetic syndromes: A case report

A curvature of a finger that bends inwards relative to the other fingers is a common observation during prenatal screening. When the angulation exceeds 10 degrees, it is known as "clinodactyly" and could suggest a variety of underlying issues. Even though it usually remains unnoticed during pregnancy, it may be a sign of serious fetal disease. We report the case of a fetus diagnosed with clinodactyly of the thumb accompanied by tachycardia, abnormal levels of maternal hormones in the first trimester and increased impedance to flow in the uterine arteries. Although non-invasive prenatal testing was normal, amniocentesis was carried out and two deviations at chromosome 20 were identified through molecular karyotyping. Our report aims to raise clinical suspicion regarding the potential association between genetic abnormalities and clinodactyly. A careful clinical and genetic consultation is required in order to achieve the most favorable outcome for both mother and child.

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Publication Details

Journal
Case Reports in Women s Health
Published
2024-12-01
DOI
https://doi.org/10.1016/j.crwh.2024.e00674
Primary Topic
Congenital limb and hand anomalies
Type
article
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article

Prenatal diagnosis of clinodactyly and its association with genetic syndromes: A case report

Anastasios Potiris, Fani Gkrozou, Charikleia Skentou, Athanasios Zikopoulos et al.
Case Reports in Women s Health
Congenital limb and hand anomalies
article

Prenatal diagnosis of clinodactyly and its association with genetic syndromes: A case report

Anastasios Potiris, Fani Gkrozou, Charikleia Skentou, Athanasios Zikopoulos, Sotirios Sotiriou, Themistoklis Loukopoulos, Anastasia Vatopoulou, Sofoklis Stavros, Emmanouil Manolakos, Nikolaos Vlassis
article en

Abstract

A curvature of a finger that bends inwards relative to the other fingers is a common observation during prenatal screening. When the angulation exceeds 10 degrees, it is known as "clinodactyly" and could suggest a variety of underlying issues. Even though it usually remains unnoticed during pregnancy, it may be a sign of serious fetal disease. We report the case of a fetus diagnosed with clinodactyly of the thumb accompanied by tachycardia, abnormal levels of maternal hormones in the first trimester and increased impedance to flow in the uterine arteries. Although non-invasive prenatal testing was normal, amniocentesis was carried out and two deviations at chromosome 20 were identified through molecular karyotyping. Our report aims to raise clinical suspicion regarding the potential association between genetic abnormalities and clinodactyly. A careful clinical and genetic consultation is required in order to achieve the most favorable outcome for both mother and child.

Case Reports in Women s HealthVol. 44
University of Thessaly (GR), Royal Devon and Exeter Hospital (GB), University General Hospital Attikon (GR), University Hospital of Ioannina (GR), Genetic Analysis (Norway) (NO), American Congress of Obstetricians and Gynecologists (US)
Gender equality
Openalex Percentile: Top 80%
Congenital limb and hand anomalies
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Prenatal diagnosis of clinodactyly and its association with genetic syndromes: A case report — Anastasios Potiris, Fani Gkrozou, et al. · Case Reports in Women s Health (2024) | TGRS Research Map | TGRS