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...

Descripción completa

Detalles Bibliográficos
Autores principales: Blitz, Matthew J., Rochelson, Burton
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