Cargando…
Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography
Introduction Ectrodactyly, also known as split hand/foot malformation, is a rare developmental abnormality of the limbs that consists of absent central digits, a deep median cleft, and fusion of the remaining lateral digits, ultimately producing clawlike extremities. This case represents one of the...
Autores principales: | , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Thieme Medical Publishers
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4794437/ https://www.ncbi.nlm.nih.gov/pubmed/26989570 http://dx.doi.org/10.1055/s-0036-1579653 |
_version_ | 1782421470012506112 |
---|---|
author | Blitz, Matthew J. Rochelson, Burton |
author_facet | Blitz, Matthew J. Rochelson, Burton |
author_sort | Blitz, Matthew J. |
collection | PubMed |
description | Introduction Ectrodactyly, also known as split hand/foot malformation, is a rare developmental abnormality of the limbs that consists of absent central digits, a deep median cleft, and fusion of the remaining lateral digits, ultimately producing clawlike extremities. This case represents one of the earliest reported diagnoses of this anomaly to utilize three-dimensional (3D) ultrasonography. Case A nulliparous woman presented at 13 weeks of gestation for first-trimester aneuploidy screening. On two-dimensional (2D) imaging, she was noted to have a fetus with a shortened right upper limb and a malformed right hand with no clearly visualized digits. The anomaly was then further evaluated with both transabdominal and transvaginal 2D and 3D ultrasonography with postprocessing visualization, revealing absent central digits. Neither the patient nor her husband reported any personal or family history of skeletal or other structural malformations. Discussion Fetal limb abnormalities are being encountered at increasingly earlier gestational ages due to improvements in image quality and expanded use of ultrasound in the first trimester. Early identification of fetal limb malformations without a definitive diagnosis or a clear pattern of inheritance can present a challenging clinical scenario. Patients may opt for earlier termination of pregnancy rather than wait for additional information to guide decision-making. |
format | Online Article Text |
id | pubmed-4794437 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Thieme Medical Publishers |
record_format | MEDLINE/PubMed |
spelling | pubmed-47944372016-03-17 Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography Blitz, Matthew J. Rochelson, Burton AJP Rep Article Introduction Ectrodactyly, also known as split hand/foot malformation, is a rare developmental abnormality of the limbs that consists of absent central digits, a deep median cleft, and fusion of the remaining lateral digits, ultimately producing clawlike extremities. This case represents one of the earliest reported diagnoses of this anomaly to utilize three-dimensional (3D) ultrasonography. Case A nulliparous woman presented at 13 weeks of gestation for first-trimester aneuploidy screening. On two-dimensional (2D) imaging, she was noted to have a fetus with a shortened right upper limb and a malformed right hand with no clearly visualized digits. The anomaly was then further evaluated with both transabdominal and transvaginal 2D and 3D ultrasonography with postprocessing visualization, revealing absent central digits. Neither the patient nor her husband reported any personal or family history of skeletal or other structural malformations. Discussion Fetal limb abnormalities are being encountered at increasingly earlier gestational ages due to improvements in image quality and expanded use of ultrasound in the first trimester. Early identification of fetal limb malformations without a definitive diagnosis or a clear pattern of inheritance can present a challenging clinical scenario. Patients may opt for earlier termination of pregnancy rather than wait for additional information to guide decision-making. Thieme Medical Publishers 2016-03 /pmc/articles/PMC4794437/ /pubmed/26989570 http://dx.doi.org/10.1055/s-0036-1579653 Text en © Thieme Medical Publishers |
spellingShingle | Article Blitz, Matthew J. Rochelson, Burton Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography |
title | Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography |
title_full | Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography |
title_fullStr | Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography |
title_full_unstemmed | Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography |
title_short | Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography |
title_sort | prenatal diagnosis of ectrodactyly in the first trimester by three-dimensional ultrasonography |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4794437/ https://www.ncbi.nlm.nih.gov/pubmed/26989570 http://dx.doi.org/10.1055/s-0036-1579653 |
work_keys_str_mv | AT blitzmatthewj prenataldiagnosisofectrodactylyinthefirsttrimesterbythreedimensionalultrasonography AT rochelsonburton prenataldiagnosisofectrodactylyinthefirsttrimesterbythreedimensionalultrasonography |