Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers

American Journal of Medical Genetics. Part a
Dagmar WieczorekEberhard Passarge

Abstract

The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation, microcephaly, specific facial features, broad thumbs and halluces, and MR of variable degree. Ten percent of patients with RTS have a microdeletion 16p13.3, 40-50% carry a mutation of the CREBBP gene and another 3% have a mutation in the EP300 gene. In the remaining patients with clinically suspected RTS no mutation can be detected. Here we describe two patients with an RTS phenotype, one with a mutation in the CREBBP gene and the other without a detectable CREBBP or EP300 mutation and without a chromosomal imbalance on high-resolution arrays. Both patients present with the characteristic facial RTS phenotype, broad thumbs and big toes, mild MR, formation of keloids and glaucoma, but without postnatal growth retardation or microcephaly. In addition, they have both congenital camptodactyly of third (and fourth) fingers, which has not reported in RTS previously. We suggest that they represent a clinical subtype of RTS.

References

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Citations

Jan 21, 2015·Italian Journal of Pediatrics·Donatella MilaniSusanna Esposito
Dec 28, 2016·Clinical Dysmorphology·Mateusz JaglaBeata A Nowakowska
Jan 24, 2018·American Journal of Medical Genetics. Part a·Max V BootDaphne de Jong
Aug 19, 2014·The British Journal of Dermatology·A L van de KarR C M Hennekam
Jan 30, 2015·Journal of Hypertension·Donatella MilaniSusanna Esposito
Sep 29, 2020·American Journal of Medical Genetics. Part a·Cedrik Tekendo-NgongangPaul Kruszka
Jan 17, 2012·Primary Dental Care : Journal of the Faculty of General Dental Practitioners (UK)·Madiraju GunashekharSyed Kamran Bokhari

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