Related Experiment Video
Updated: May 7, 2026
02:42
Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
Published on: January 17, 2025
Associated malformations among infants with radial ray deficiency
1Laboratoire de Génétique Médicale, Faculté de Médecine, Strasbourg, France. cstoll@unistra.fr
Genetic Counseling (Geneva, Switzerland)
|September 17, 2013
Summary
Most infants with radial ray deficiencies have other congenital anomalies, with 75% affected. Thorough investigation and screening for musculoskeletal, cardiac, and urogenital issues are crucial for these infants.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Cardiology
Background:
- Radial ray deficiencies (RRD) are congenital anomalies often accompanied by other malformations.
- Existing data on the frequency and types of associated anomalies in RRD are inconsistent.
- A comprehensive understanding of associated conditions is vital for affected infants.
Purpose of the Study:
- To determine the prevalence and spectrum of congenital anomalies associated with radial ray deficiencies.
- To analyze associated conditions in a large, population-based cohort over an extended period.
Main Methods:
- Population-based study of 346,831 births from 1979 to 2004.
- Identified 73 infants with radial ray deficiencies.
- Classified associated malformations into chromosomal, non-chromosomal recognizable, and non-recognizable conditions.
Main Results:
- The prevalence of RRD was 2.1 per 10,000 births.
- 75% of infants with RRD had associated malformations.
- Common associated conditions included Trisomy 18, VACTERL association, and anomalies of the musculoskeletal, cardiovascular, and urogenital systems.
Conclusions:
- The high frequency of associated malformations in RRD necessitates thorough infant evaluation.
- Screening for musculoskeletal, cardiac, and urogenital anomalies should be considered.
- Genetic evaluation and counseling are recommended for infants with RRD.
Related Concept Videos
01:30Neurulation
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...
01:09Bones of the Upper Limb: Radius
The radius is longer of the two bones that make up the human antebrachium or forearm. At the proximal end, the radius articulates with the capitulum of the humerus and the radial notch of the ulna to form the elbow joint. At the distal end, the radius articulates with the ulna via the ulnar notch, forming the distal radioulnar joint. Distally, the radius also attaches to the carpal wrist bones (scaphoid and lunate) to form the radiocarpal joint.
The radius has a nail-shaped head, and a short...
The radius has a nail-shaped head, and a short...
01:07Teratogenicity
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
01:25Assessment of apical radial pulse
Apical-Radial (A-R) Pulse Assessment
The A-R pulse assessment involves simultaneous evaluation of the apical and radial pulses. When the apical and radial pulse rates vary, this assessment helps identify a pulse deficit.
Pre-Procedural Preparation
The A-R pulse assessment involves simultaneous evaluation of the apical and radial pulses. When the apical and radial pulse rates vary, this assessment helps identify a pulse deficit.
Pre-Procedural Preparation
02:18Alternative RNA Splicing
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
01:09Changes in the Appendicular Skeleton with Age
The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...