It also exhibits
arachnodactyly and deformity of nails and fingers in the hand.
We found also, his hands were small and associated with
arachnodactyly and his toes were thin.
(c, d)
Arachnodactyly. (c) Oxford Medical Illustration.
[5,6] Molecular analysis of Marfan-like conditions has unveiled that patients with congenital contractural
arachnodactyly (CCA or Beals syndrome) carry germline mutations of the fibrillin 2 (FBN2) gene on chromosome 5q23-q31.
Clasped thumb can be found in the following: distal arthrogryposis, (74, 75) wind-blown hand syndrome, (76, 77) Freeman Sheldon syndrome, (78) Hecht syndrome (congenital contractural
arachnodactyly), (70) MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs), (79, 80) congenital hydrocephalus, (81) and congenital muscular dystrophy.
Retrospectively, medical historians thought that Gabrielle had been born with congenital contractural
arachnodactyly.
Musculoskeletal manifestations are scoliosis, pectus excavatum, pectus carinatium,
arachnodactyly, and acetabular protrusion.
The Steinberg test for
arachnodactyly, in which the thumb is adducted across the palm, was considered a possible indication of marfanoid habitus, if the thumb projected beyond the ulnar boarder of the hand.
Joint hyperlaxity,
arachnodactyly, pecus excavatum or carinatum, scoliosis and contractures of the feet (talipes equinovarus) are seen in LDS patients, and are also common in Marfan syndrome.
Shprintzen-Goldberg syndrome (SGS) is characterized by craniosynostosis (involving the coronal, sagittal, or lambdoid sutures), distinctive craniofacial features, skeletal changes (dolichostenomelia,
arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility, or contractures), neurologic abnormalities, mild-to-moderate intellectual disability, and brain anomalies.
In regard to the aforementioned syndrome patients we have to note that they presented with a variety of the expected typical characteristics, more specifically MVP,
arachnodactyly, muscular atrophy and ectopia lentis for the Marfan patients, and MVP skin and joint hyperextensibility (8), ectopia lentis and highgraded myopia for the Ehlers-Danlos patients.
In addition to typical bilateral lens subluxation,
arachnodactyly and long and thin extremities were found in the patient.