Surgical correction of contractural arachnodactyly deformity of a child with Marfan syndrome / 中华烧伤杂志

A Marfan syndrome child with contractural arachnodactyly deformity of both hands was admitted to our unit in June 2015. The left and right middle fingers and ring fingers of the child received the continuous " Z" skin flap and " V-Y" plasty to reduce the palmar tension on the skin and release the contracture. Due to the improper therapeutic strategy and the underestimation of effect of underlying lesions of Marfan syndrome on the therapeutic strategy, the right middle finger of child was with ischemic necrosis and amputated, and the finger tip was accompanied with distension and paroxysmal neuropathic pain at a specified future date. The skin flaps of the other three surgical fingers were with local necrosis and scar healing. The child was complicated by distal interphalangeal joints stiffness and some serious complications post-discharge. Combined with this case, the similar disorders are not recommended to carry out one-stage operation.

A case of Beals Syndrome in a Filipino child

@#We report a case of a 12-year-old Filipino female with crumpled ears, arachnodactyly, camptodactyly, and congenital joint contractures, consistent with Beals syndrome. Marfan syndrome is a common differential diagnosis, since both are caused by mutations in two homologous genes, namely FBN1 and FBN2. Both syndromes share similar characteristics hence, it is essential to differentiate the two, since Marfan syndrome may develop fatal complications, not encountered in Beals Syndrome. Management of Beals syndrome is mainly supportive including physiotherapy and ophthalmologic and cardiovascular evaluation.

A Case Report of Beals Syndrome with Hydrocephalus / 대한주산의학회잡지

Beals syndrome, also known as Beals-Hecht syndrome or congenital contractural arachnodactyly, is a rare, autosomal dominant connective tissue disorder. It is characterized by crumpled ears, arachnodactyly, congenital contractures and scoliosis. A male infant of 37+5 weeks of gestation, and with birth weight of 3170 grams, had features of a long and narrow face, bilateral crumpled inferior helix, prominent antihelix of the ears, bilateral arachnodactyly, clenched position of the hands and flexion contractures of the elbows and knees. The infant had tachypnea and chest retractions shortly after birth, and was diagnosed with transient tachypnea of newborn with pneumothorax. He was subsequently treated with positive pressure ventilation and chest tube insertion. Chromosomal karyotype analysis was normal and screening for Marfan syndrome was negative. Echocardiographic findings were unremarkable. Cranial ultrasonography showed a left lateral ventricle dilatation of 0.5 cm and increase up to 1.2 cm on follow up. Brain MRI showed a progression of dilatation of the left ventricle, and a ventriculo-peritoneal shunt was done at 3 months of age. We present a case of a newborn male with Beals syndrome, accompanied with ventricular dilatation and progression to hydrocephalus that has not been previously reported.

Marfan's syndrome: an overview / A síndrome de Marfan: uma revisão geral

Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta, and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder.

Síndrome de Marfan é uma condição autossômica dominante com prevalência estimada de 1 em 10.000 a 20.000 indivíduos. É uma rara desordem hereditária do tecido conjuntivo que afeta muitas partes do corpo. O diagnóstico da síndrome de Marfan é feito de acordo com uma revisão dos critérios diagnósticos conhecida como a nosologia Ghent, por meio de uma avaliação abrangente, em grande parte baseada em uma combinação de pequenas e grandes manifestações clínicas em vários sistemas de órgãos e na história familiar. Dilatação da raiz aórtica e prolapso da valva mitral são as principais apresentações entre as malformações cardiovasculares da síndrome de Marfan. A patogênese da síndrome de Marfan não foi totalmente esclarecida, mas acredita-se que mutações genéticas de fibrillina-1 exercem um efeito negativo dominante. Portanto, a síndrome de Marfan é denominada como fibrilinopatia, juntamente com outras desordens do tecido conectivo, com sutis diferenças nas manifestações clínicas. O tratamento pode incluir β-bloqueadores profiláticos e bloqueadores dos receptores da angiotensina II, a fim de retardar a dilatação da aorta ascendente e cirurgia profilática da aorta. De importância, a terapia com β-bloqueadores pode reduzir a ativação de TGF-β, que foi reconhecido como um fator contribuinte da síndrome de Marfan. O presente artigo visa proporcionar uma visão global desta rara desordem de hereditariedade.

A Case of Beals-Hecht syndrome

Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is a rare autosomal dominant, connective tissue disorder characterized by congenital joint contractures, arachnodactyly, dolichostenomelia, crumpled ear, and kyphoscoliosis. We report a case of Beals-Hecht syndrome in a 4 days old female newborn baby, associated with congenital knee and elbow joint contractures, arachnodactyly, dolichostenomelia, crumpled ear, and 4 umbilical arteries, with brief review of the related literatures.

A case of Beals syndrome

No abstract available.