Holt-Oram Syndrome - PubMed
2019年5月23日 · Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement.
Holt-Oram Syndrome - GeneReviews® - NCBI Bookshelf
2004年7月20日 · Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range …
Holt-Oram syndrome | About the Disease | GARD - Genetic and …
People with Holt-Oram syndrome have at least one bone in the wrist that did not form (develop) normally. Other bones in the hands, arms, and shoulder may also have developed abnormally. Many of these developmental changes in the bones can only be seen on an x-ray.
Holt-Oram Syndrome With Atrial Septal Defect - PMC
Other upper-limb anomalies include aplasia or hypoplasia of the radius, arm length variation, atypical forearm pronation and supination, uncommon thumb resistance, sloping shoulders, and restricted shoulder movement. All those who are affected have an aberrant carpal bone, which might be the only sign of the illness.
Holt-Oram syndrome - NIH Genetic Testing Registry (GTR) - NCBI
Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement.
Holt-Oram syndrome: a clinical genetic study - PubMed
Skeletal defects affected the upper limbs exclusively and were bilateral and asymmetrical. They ranged from minor signs such as clinodactyly, limited supination, and sloping shoulders to severe reduction deformities of the upper arm (4.5%). The radial …
Holt-Oram syndrome (Concept Id: C0265264) - National Center …
Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement.
Holt-Oram Syndrome - SpringerLink
Sloping shoulders with limited movements of the shoulder joints are common. Heart defects (in 75% of patients) most commonly include ostium secundum atrial septal defect (ASD) and ventricular septal defect (VSD), especially those occurring in the muscular trabeculated septum, but can also be complex like tetralogy of Fallot.
Holt-Oram Syndrome - SpringerLink
In 1960, Holt and Oram described a family in which nine members in four generations were affected by skeletal abnormalities of the upper limbs, cardiac malformations, and arrhythmias. The prevalence is about 1 in 100,000 live births. About 40–85% of …
Holt-Oram Syndrome - Cleveland Clinic
2024年2月19日 · Holt-Oram syndrome is a rare disorder that may be mild or serious. The condition often causes skeletal abnormalities in the hands, wrists or arms. It usually causes heart issues, too. Many people are born with a hole in their hearts or develop a problem with the electrical impulses that make their hearts contract. What is Holt-Oram syndrome?