Recurrence of Split Hand/Foot Malformation, Cleft Lip/Palate, and Severe Urogenital Abnormalities due to Germline Mosaicism forTP63Mutation

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Abstract

We describe two sibling fetuses with urogenital abnormalities detected by prenatal ultrasound, in which post-delivery examination showed split hand and foot malformation, and bilateral cleft lip and palate. These findings are consistent with ectrodactyly-ectodermal dysplasia-cleft lip with or without cleft palate syndrome (EEC). Both fetuses were found to have the same missense mutation inTP63(c.1051G > A; p.D351N). Parental clinical examinations and lymphocyte DNA analyses were normal. This report illustrates the potential severity of urogenital defects inTP63-related disorders, which may be detectable with fetal ultrasonography. It highlights the need to counsel for the possibility of germline mosaicism inTP63-associated disorders. © 2016 Wiley Periodicals, Inc.

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