Fig. 2: Phenotypic and radiographic features of the patients with pathogenic MYH3 variants.
From: Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
Please note the following features: A-II:1 has small mouth with dowslanting corners, low-set ears, prominent nasal bridge and camptodactyly. C-IV:2 has small mouth, broad chest, increased distance between the nipples, enlarged knee joints with pterygia, flat feet and camptodactyly. D-II:1 has small mouth with downslanting corners, small low set ears, prominent philtrum and increased distance between the nipples. D-II:2 has small mouth with downslanting corners, small low set ears, prominent philtrum and ptosis. F-II:2 has broad chest, scoliosis, enlarged knee joints, elbow and knee contractures and bilateral clinodactyly of the 5th finger. G-II:1 has scoliosis and pterygia. H-II:2 has broad chest, scoliosis and mild pterygia of the knee. Radiographic features: A-II:1 has multiple cervical and thoracic vertebral fusions, rudimentary disc spaces and scoliosis. B-II:1 has multiple, mainly thoracic, vertebral fusions with rudimentary disc spaces, rib crowding and scoliosis. C-III:2 and C-III:4 both have moderate scoliosis and a few thoracic and lumbar/lumbosacral fusions. C-IV:2 has multiple posterior fusions of the cervical, thoracic and lumbar spine and scoliosis. D-II:1 has several thoracic and lumbosacral fusions with a distinct curve due to asymmetric T9 vertebral body. D-II:2 has some posterior vertebral fusions, mostly thoracic, without scoliosis. E-II:1 has multiple thoracic vertebral fusions, mild rib crowding and scoliosis. F-II:2 has multiple thoracic and lumbar vertebral fusions with rudimentary disc spaces, rib crowding and marked lumbosacral lordosis without scoliosis. G-II:1 has multiple thoracic vertebral fusions, rib crowding and scoliosis. H-II:2 has multiple thoracic and lumbar/lumbosacral posterior fusions, rib crowding and scoliosis. I-II:1 has multiple thoracic and lumbar vertebral fusions, rib crowding and scoliosis. Hand radiograms of I-II:1 at 5 and 8 years of age show development of lunotriquetral fusion. J-II:1 has multiple thoracic and lumbar vertebral fusions, rib crowding and scoliosis at 4 years 4 months of age. Hand radiogram shows lunotriquetral fusion.
