Abstract
Hand–foot–genital syndrome (HGS) is characterized by brachydactyly with abnormal thumbs and short halluces. The thumbs are proximally placed, and the thenar eminences are hypoplastic. There is medial deviation of the distal halluces (hallux varus). Radiographic changes include a short 1st metacarpal and metatarsal, short 5th fingers with clinodactyly, fusion of the trapezoid and scaphoid in the wrist, and fusion of the cuneiform and navicular in the foot. The middle phalanges may be hypoplastic, and pseudoepiphyses may be present. Occasionally, symphalangism of the middle and distal phalanges of the 2nd, 3rd, 4th, or 5th toes is seen. There is delayed carpal or tarsal maturation. Females have duplications of the urogenital tract, including uterus bicornis and longitudinal vaginal septum. Affected males may have penile hypospadias of variable severity with or without chordee, short penis, or bifid scrotum. Ureterovesical reflux, ectopic accessory ureteral orifice, and subsequent recurrent urinary tract infections are common features in both sexes. The limb abnormalities are reported to be fully penetrant, bilateral, and symmetrical, whereas the genitourinary abnormalities are incompletely penetrant and variably severe.
References
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Mundlos, S., Horn, D. (2014). Hand-Foot-Genital Syndrome. In: Limb Malformations. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-95928-1_39
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DOI: https://doi.org/10.1007/978-3-540-95928-1_39
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