Figure 2
From: Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype
Selected clinical features of the presented patients. (a) Photographs, X-ray image and transthoracic echocardiography in parasternal long-axis of subject 1A. Note the long and slender fingers (arachnodactyly) and camptodactyly of digit V of the right hands (upper left image) as well as the subluxation of the proximal phalanx of the right thumb (black circle, upper right image) and erosive changes of the distal epiphysis of the 3rd and 4th metacarpal bone (white circle, upper right image). The lower image shows normal aortic root diameter of 29 mm (Z-Score 1.3) and intact aortic shape. (b) Photographs of subject 1B. Note the long and slender fingers (arachnodactyly) with camptodactyly of the fifth finger. (c) Pedigrees of the families of subjects 1, 2 and 3. Affected individuals show a MASS-like phenotype and carry a putative disease-relevant COL2A1 variant. Identified heterozygous variants in COL2A1 are given. Parents of subjects 2 and 3 were not clinically examined and segregation analysis was not possible in the parents of subject 2. + , wild-type allele; n.d., not determined. (d) Magnetic resonance images of the lower spine and spinal cord of subject 3. Note the lumbosacral dural ectasia (black arrows).
