PMC10352915_01
(A), hexadactyly of the right hand; (B), hexadactyly of the right foot; (C), hexadactyly of the left foot; (D,E), longitudinal ultrasound section through the left and right kidney.
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F1
His older brother, who was 18 months old at the moment of the proband's disease presentation, also had polycystic kidneys with the same type of hexadactyly and syndactyly (Figures 1A-C), while their older sister (5 years old) additionally presented with hydrometrocolpos and hydronephrosis at birth. Furthermore, all three patients had an almost identical ultrasound finding of the urinary system, described as diffusely hyperechoic parenchyma of both kidneys, without corticomedullary differentiation with numerous small cysts (Figures 1D, E).