Prenatal diagnosis of triphalangeal thumb-polysyndactyly syndrome by ultrasonography combined with genetic testing: A case report

Figure 1 Limb features of patients with triphalangeal thumb-polysyndactyly syndrome. A and B: Physical and X-ray examinations showed that the mother had triphalangeal thumb, pre- and postaxial polysyndactyly, and cutaneous fusion of the 3^rd, 4^th, and 5^th fingers accompanied by deviant posture of the hands, with unaffected index fingers; C and D: Physical and X-ray examinations showed that the mother’s right foot had postaxial polysyndactyly; E-H: X-ray examination revealed that the son had an abnormality similar to that of his mother; I: Two-dimensional ultrasound showed triphalangeal thumb polysyndactyly; J and K: Two-dimensional ultrasound showed trident-like thumb; L: Three-dimensional ultrasound vividly showed postaxial webbing of the fingers; M: Postnatal autopsy of both hands showed pre- and postaxial polysyndactyly and webbing of the 3^rd, 4^th, and 5^th fingers; N: Postnatal X-ray images of both hands showed triphalangeal thumb polysyndactyly and six metacarpals; O: Prenatal ultrasound image of the left hand showed an echo of an extra digit on the 5^th finger side and double thumbs; P: Prenatal ultrasound image of the left hand showed no separation of the 3^rd, 4^th, and 5^th fingers. LH: Left hand; L: Left; R: Right.