Background: RSTS is a rare autosomal dominant inheritance disease. It is easy to overlap with the phenotypes of other syndromes, To assist with future diagnoses, we summarize the clinical and genetic characteristics of children with Rubinstein-Taybi syndrome.
Case presentation: The patient, female, aged 3 months, 4.2 kg, was admitted into our hospital 3 times after birth due to repeated infections, shortness of breath, poor response, low crying, cyanosis and poor breastfeeding. The child has a special complexion with congenital heart disease, hearing impairment, and hypothyroidism. The anterior fontanel has a lot of vellus hair, mainly on the back, low hairline, micrognathia, high palate arch. the high-precision clinical explicit PLUS test and analysis were performed on all of their blood. CREBBP gene heterozygous mutation c.890T> A (p.L297 *) was detected. At the same time, the sequencing data showed that the parents of the examinee did not carry this mutation, which may be new.
Conclusion: combining clinical manifestations and genetic testing can clearly diagnose Rubinstein-Taybi syndrome and enriched human CREBBP gene mutation database.
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