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The cases
Published in Chris Schelvan, Annabel Copeman, Jacky Davis, Annmarie Jeanes, Jane Young, Paediatric Radiology for MRCPCH and FRCR, 2020
Chris Schelvan, Annabel Copeman, Jacky Davis, Annmarie Jeanes, Jane Young
Absent radius is associated with: — Thromboctyopenia–Absent Radius (TAR) syndrome.— Fanconi’s anaemia.— Holt-Oram syndrome.— Vertebral abnormalities, Anal atresia, TracheoEsophageal fistula, Renal or Limb abnormalities (VATER)/VACTERL.— Acrofacial dysostosis.— Thalidomide embryopathy.
Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Limb reduction defects may be extremely difficult to distinguish from each other. Some, in particular asymmetrical amputation defects associated with ‘amniotic constriction bands’, are likely to be non-genetic. Other asymmetrical defects may be associated with oesophageal, anal, cardiac, renal and vertebral abnormalities (the VATER or VACTERL association); again, the recurrence risk is low. Thalidomide was previously a major cause, but no other definite drug-induced defects of this type are known. The severe symmetrical limb reduction disorder Roberts syndrome, which shows a characteristic abnormality of chromosomal division, is autosomal recessive. Limb changes in Holt-Oram syndrome (autosomal dominant mutations in TBX5) can be very similar to those caused by thalidomide and may occur without accompanying cardiac defect.
General Considerations
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
A syndrome refers to a recognized pattern of malformations considered to have a single and specific cause, such as the Holt-Oram syndrome, an autosomal dominant disorder with malformations of the heart and upper extremities. Association is used to indicate a pattern of malformations for which no specific etiology has been identified, such as the VATER association of vertebral, anal, tracheal, esophageal, radial upper limb, and renal anomalies. A morphogenic complex (which has also been called an anomalad) comprises a primary malformation and its derived structural changes, but does not specify a cause.26
Growing up with a rare genetic disease: an interpretative phenomenological analysis of living with Holt-Oram syndrome
Published in Disability and Rehabilitation, 2021
Elodie Brugallé, Pascal Antoine, Laura Geerts, Laurence Bellengier, Sylvie Manouvrier-Hanu, Carole Fantini-Hauwel
Holt-Oram syndrome is a genetic disease characterized by abnormalities of the upper limbs and shoulder girdle and associated with a congenital heart defect [3]. The limb anomalies are constant and located on the radial ray and include thumb anomalies (triphalangeal, hypoplastic or absent thumbs), carpal bone malformation(s), and radial hypoplasia or aplasia to phocomelia [4]. Cardiac defects, which mainly consist of atrial septum and ventricular septum defects, affect 75% of people living with HOS [5]. In the most severe cases, these malformations require surgical intervention in the first years of life [6].
Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome
Published in Journal of Obstetrics and Gynaecology, 2022
Omar Sobh, Robert O’Sullivan, Maurice J. Mahoney, Gary Kleinman
Holt-Oram Syndrome is a rare genetic condition with limb and cardiac manifestations. It is important for physicians to be aware of the inheritance pattern and variable expression so that patients can be appropriately counselled on recurrence risk. When suspect, mosaicism can still be difficult to establish because of wide variation in the amount of mosaic cells, including their absence, in any given cell type. If mosaicism is detected or suspected, estimation of approximate risk is difficult and preimplantation diagnosis for future pregnancies becomes important.