Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation

Valenzuela, Irene; Fernández-Álvarez, Paula; Munell, Francina; Sánchez‐Montáñez, Ángel; Giralt, Gemma; Vendrell, Teresa; Tizzano, Eduardo F.

doi:10.1016/j.ejmg.2017.03.010

Cited by 9 publications

(9 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This is the first reported case in which the prenatal ultrasound features of LDS Type 4 have been described. The prenatal features of Type-1 and Type-2 LDS have been reported in previous cases, all of which included cardiovascular findings (Table S1) [5][6][7][8] . Therefore, if maternal LDS is known, a fetal echocardiogram is recommended.…”

Section: Prenatal Ultrasound Features Of Loeys-dietz Syndrome Typementioning

confidence: 74%

Prenatal ultrasound features of Loeys–Dietz syndrome Type 4

Russo

Gandhi

Al‐Kouatly

et al. 2021

Ultrasound in Obstet & Gyne

View full text Add to dashboard Cite

Section: Prenatal Ultrasound Features Of Loeys-dietz Syndrome Typementioning

confidence: 74%

Prenatal ultrasound features of Loeys–Dietz syndrome Type 4

Russo

Gandhi

Al‐Kouatly

et al. 2021

Ultrasound in Obstet & Gyne

View full text Add to dashboard Cite

“…Valenzuela et al рекомендуют проводить дифференциальную диагностику синдрома Лоеса -Дитца с врожденным множественным артрогрипозом. Однако при артрогрипозе отсутствуют изменения со стороны сердечно-сосудистой системы, характерные для данного синдрома [37].…”

Section: другие клинические проявления синдрома лоеса -дитцаunclassified

Loeys–Dietz syndrome (literature review and case description)

Agranovich

Евгеньевна²,

Semenov

et al. 2020

Pediatr Traum Orthop Reconstr Surg

View full text Add to dashboard Cite

Background. The LoeysDietz syndrome is a rare autosomal dominant connective tissue disorder characterized by the pathology of the cardiovascular system in combination with various anomalies of the musculoskeletal system. In modern literature, there is neither any information about the frequency of pathology nor any algorithm of examination and treatment for patients with this syndrome. Clinical case. The article presents a clinical observation of a 7-year-old patient with LoeysDietz syndrome with a genetically confirmed diagnosis. Discussion. This article provided a literature review, examined diagnosis issues and differential diagnosis, and presented the clinical picture of the syndrome. The main symptoms of LoeysDietz syndrome are artery aneurysms (most often in the aortic root), arterial tortuosity (mainly the vessels of the neck), hypertelorism, and bifid (split) or broad uvula. However, the combination of these symptoms is not found in all patients with this disease. Conclusions. The article emphasized the importance of a genetic verification of the disease, as well as a multidisciplinary approach to treatment with mandatory dynamic monitoring by specialists such as a cardiologist, neurologist, orthopedist, and pediatrician, which help prevent the development of complications and increase the life expectancy of this group of patients.

show abstract

“…ATS features include elongation, tortuosity and aneurysms of major arteries, cutis laxa, joint laxity, hernias, long slender face, and high-arched palate. In a few cases of LDS with TGFBR1 or TGFBR2 missense mutations, ultrasound prenatal findings have been reported [Valenzuela et al, 2017]. These findings include cardiologic and/or musculoskeletal involvement (pulmonary artery aneurysm, aortic aneurysm, and/or arthrogryposis) without fatal outcome.…”

Section: Differential Diagnoses Of Arcl1bmentioning

confidence: 99%

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2

et al. 2018

View full text Add to dashboard Cite

EFEMP2 mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B of particular severity leading to termination of pregnancy. Cardinal signs of this connective tissue disease were already seen during the second trimester of pregnancy, then confirmed and clarified at autopsy. Anomalies included cutis laxa, arachnodactyly, clubfoot, wormian bones, moderate bowing of long bones with slender bone trabeculae, rib fractures, undermuscularized diaphragm, hiatal hernia, and arterial tortuosity with thick vascular walls and disorganized elastic fibers. Sequencing of the EFEMP2 gene revealed a novel homozygous nonsense mutation: c.639C>A (p.Cys213*). We performed a thorough histological analysis and discuss differential diagnoses, genotype-phenotype correlations, and the challenge of prenatal diagnosis of this disease.

show abstract

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation

Cited by 9 publications

References 14 publications

Prenatal ultrasound features of Loeys–Dietz syndrome Type 4

Prenatal ultrasound features of Loeys–Dietz syndrome Type 4

Loeys–Dietz syndrome (literature review and case description)

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2

Contact Info

Product

Resources

About