Marfan's syndrome is another name of arachnodactyly and was firstly noted by Marfan in 1896. Salle found that ocular signs are also accompanied by this syndrome. Since then, many cases of this syndrome have been reported even in this country. The etiology of this syndrome is not exactly classified but is thought as an hereditorical and general developemental abnormalities of mesodermal origin. Authors report here a case of this syndrome in which ectopia lentis, lens opacity, organization of vitreous and iridodonesis are present.
Arachnodactyly ; Cataract ; Ectopia Lentis ; Marfan Syndrome ; Mesoderm

Marden-Walder syndrome is characterized by a mask-like face, blepharophimosis, joint contractures, and psychometer retardation. We report a newborn infant with the clinical features of the syndrome. He was diagnosed with clinical findings of mask-like face, blepharophimosis, micrognathia, camptodactyly, arachnodactyly, multiple contractures, and hypotonia. The infant died of aspiration pneumonia at 5 months. A brief review of related literature is also presented.
Arachnodactyly ; Blepharophimosis ; Contracture ; Humans ; Infant ; Infant, Newborn ; Joints ; Muscle Hypotonia ; Pneumonia, Aspiration

The hand length, foot length, middle finger length as percentage of total hand length, palm length, height, birth weight head circumference of 143 neonates of gestational ages ranging from twen-five to fourty-two weeks were measured between 12 hours and 5 days of life in order to find out normal values and correation between them. The subjects were devided into three groups of term babies with weight appropriate for gestational age, of term babies with weight light for dates and of premature babies. The following results were obtained. 1. The means, standard deviations & percentile values of hand length, foot length, palm length, middle finger length, middle finger length as percentage of total hand length in term babies(n=110) were obtained(Table 3). The sexual difference was statistically insignificant(p<0.05) in all. 2. There was a positive linear correlation between foot and hand length and other indices of anthropometric measurements in all groups. In premature babies, the correlation between foot length hadd length(r=0.79), foot length and height(r=0.64) as well as foot length and birth weight(r=0.82) were excellent. The 95percent confidence limits of the regression lines were+/-0.66cm,+/-0.66cm, and+/-374g, respectively. The birth weight and height of premature babies can theoretically be estimated from a measurement of foot length which can be performed easily and rapidly. 3. A positive linear correlation(r=0.79) between foot length and gestational age exist and the foot length of 7.0cm serves as a reliable index of prematurity. Its diagnosi bility was 0.998, 0.612. 4. The normal values of hand length, foot length, palm length, middle finger length, middle finger length as percentage of total hand length, which were obtained in this study, will be helpful to diagnose as brachydactyly or arachnodactyly.
Arachnodactyly ; Birth Weight ; Brachydactyly ; Fingers ; Foot* ; Gestational Age ; Hand* ; Head ; Humans ; Infant, Newborn* ; Parturition ; Reference Values

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.
Arachnodactyly ; Connective Tissue ; Contracture ; Ear ; Elbow Joint ; Female ; Humans ; Infant, Newborn ; Joints ; Knee ; Umbilical Arteries

Marfan's Syndrome was a collagenous hereditary disorder affected by the long bone, heart and eyes. This typical arachnodactyly patient was 8 year old boy who has had visual disturbance due to central opacitous lens subluxation of both eyes. We performed successfull intracapsular lens extraction by use of cryolens extractor for both eyes. X-ray chest suggested the evidence of aortic aneurysm. Electron microscopic study for the zonular fibers of the lens showed a relative loose aggregated zonular fibers with small amount of its bundles, but chromosomal study for this patient showed no abnormality.
Aortic Aneurysm ; Arachnodactyly ; Child ; Collagen ; Heart ; Humans ; Lens Subluxation ; Male ; Marfan Syndrome ; Thorax

OBJECTIVE: To identify the pathogenic variants from a patient with suspected congenital contractural arachnodactyly, and to explore the possible molecular genetic pathogenesis, so as to provide evidence for clinical diagnosis. METHODS: Whole exome sequencing was performed for the patient. The splicing site variation of candidate pathogenic genes was verified by Sanger sequencing, and the new transcript sequence was determined by RT-PCR and TA-cloning sequencing. RESULTS: The patient carried a heterozygous c.533-1G>C variant of FBN2 gene, which was not reported. The sequencing of mRNA showed that the variant leaded to the disappearance of the canonical splice acceptor site of FBN2 gene and the activation of a cryptic splice acceptor site at c.533-71, resulting in the insertion of 70 bp sequence in the new transcript. It was speculated that the polypeptide encoded by the new transcript changed from valine (Val) to serine (Ser) at amino acid 179, and prematurely terminated after 26 aminoacids. According to the guidelines of American College of Medical Genetics and Genomics, the variant of FBN2 gene c. 533-1G>C was determined as pathogenic (PVS1+PM2+PP3 ). CONCLUSION A novel splicing variant of FBN2 gene (c.533-1G>C) was identified, which can lead to congenital contractural arachnodactyly.
Arachnodactyly/genetics* ; Contracture/genetics* ; Fibrillin-2/genetics* ; Humans ; Mutation ; RNA Splice Sites ; Whole Exome Sequencing

OBJECTIVE: To detect pathological variant in a Chinese pedigree affected with congenital contractural arachnodactyly (CCA). METHODS: Next generation sequencing (NGS) was used to scan the whole exome of the proband. Potential variant of the FBN2 gene was also detected in all members of the pedigree and 100 healthy controls by Sanger sequencing. With the determination of the genotype, prenatal diagnosis was carried out by amniotic fluid sampling. RESULTS: A c.3528C>A (p.Asn1176Lys) variant was identified in the FBN2 gene of the proband, other patients from this pedigree, as well as the fetus. The same variant was not found among healthy members from this pedigree and the 100 healthy controls. CONCLUSION The c.3528C>A (p.Asn1176Lys) variant of the FBN2 gene probably underlies the pathogenesis of CCA in our case. The new variant has enriched pathological spectrum of the FBN2 gene.
Arachnodactyly ; complications ; genetics ; Contracture ; congenital ; etiology ; genetics ; Exome ; Female ; Fibrillin-2 ; genetics ; Humans ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis

A case of an anterior communicating(Acom) artery aneurysm in a 36-year-old woman with polycystic kidney, and a case of multiple aneurysms(Acom. And anterior choroidal artery aneurysm) in a 49-year-old man with Marfan's syndrome are reported. Polycystic kidney was confirmed by abdominal ultrasonography and computed tomography. Marfan's syndrome was diagnosed with skeletal abnormalities(dolichocephaly, highly arched palate, cleft palate, arachnodactyly and tall slender height with excessive length of limbs) and marked elongation and tortuosity of the vertebral artery on cerebral angiography. Those patients were treated with the clipping of aneurysms. We will discuss the pathogenesis of cerebral aneurysm in those diseases with stress on the important points of management.
Adult ; Aneurysm ; Arachnodactyly ; Arteries ; Cerebral Angiography ; Choroid ; Cleft Palate ; Female ; Humans ; Intracranial Aneurysm* ; Marfan Syndrome* ; Middle Aged ; Palate ; Polycystic Kidney Diseases* ; Ultrasonography ; Vertebral Artery

A 33-year-old male presented with an acute onset of back pain and abdominal pain. He was 189.9 cm tall and had an arm span of 194 cm, and had mild pectus carinatum as well as arachnodactyly. Plain radiographs showed kyphoscoliosis of the lumbar spine, bamboo spine of the thoracic spine, and sacroiliitis of the pelvis. Abdominal computed tomography revealed debakey type 3 aortic dissection. We prescribed beta blockers to control his blood pressure. According to the modified New York criteria, we diagnosed him with HLA negative ankylosing spondylitis and initiated therapy with nabumetone and sulfasalazine. We later diagnosed Marfan syndrome based on the Ghent criteria and mutation screening at the fibrillin-1. After treatment, he has been followed up without symptoms or complications.
Abdominal Pain ; Arachnodactyly ; Arm ; Back Pain ; Blood Pressure ; Butanones ; Humans ; Male ; Marfan Syndrome ; Mass Screening ; Microfilament Proteins ; New York ; Pelvis ; Sacroiliitis ; Spine ; Spondylitis, Ankylosing ; Sulfasalazine

Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component of the connective tissues. A 10-year-old girl visited our hospital with the chief complaint of precocious puberty. According to her medical history, she had a pulmonary wedge resection for a pneumothorax at 9 years of age. There was no family history of MFS. Mid parental height was 161.5 cm. The patient's height was 162 cm (>97th percentile), and her weight was 40 kg (75th-90th percentile). At the time of initial presentation, her bone age was approximately 11 years. From the ophthalmologic examination, there were no abnormal findings except myopia. There was no wrist sign. At the age of 14 years, she revisited the hospital with the chief complaint of scoliosis. Her height and weight were 170 cm and 50 kg, respectively, and she had arachnodactyly and wrist sign. We performed an echocardiograph and a test for the FBN1 gene mutation with direct sequencing of 65 coding exons, suspecting MFS. There were no cardiac abnormalities including mitral valve prolapse. A cytosine residue deletion in exon 7 (c.660delC) was detected. This is a novel mutation causing a frameshift in protein synthesis and predicted to create a premature stop codon. We report the case of a patient with MFS with a novel FBN1 gene missense mutation and a history of pneumothorax at a young age without cardiac abnormalities during her teenage years.
Arachnodactyly ; Child ; Clinical Coding ; Codon, Nonsense ; Connective Tissue ; Cytosine ; Exons ; Female ; Humans ; Marfan Syndrome* ; Microfibrils ; Mitral Valve Prolapse ; Mutation, Missense ; Myopia ; Parents ; Pneumothorax* ; Puberty, Precocious ; Scoliosis ; Wrist