Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
Rubinstein–Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2022/3388879 |
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| author | Rhea Camille R. Yumul Mary Anne D. Chiong |
| author_facet | Rhea Camille R. Yumul Mary Anne D. Chiong |
| author_sort | Rhea Camille R. Yumul |
| collection | DOAJ |
| description | Rubinstein–Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes, cryptorchidism, recurrent pneumonia, developmental delay, and growth retardation. Genetic testing showed a novel pathogenic variant in the CREBBP gene which is consistent with the clinical diagnosis of RSTS. |
| format | Article |
| id | doaj-art-bb20d6cf72274169acb75249fc07f557 |
| institution | DOAJ |
| issn | 2090-6552 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-bb20d6cf72274169acb75249fc07f5572025-08-20T03:23:27ZengWileyCase Reports in Genetics2090-65522022-01-01202210.1155/2022/3388879Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic VariantRhea Camille R. Yumul0Mary Anne D. Chiong1Department of PediatricsDepartment of PediatricsRubinstein–Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes, cryptorchidism, recurrent pneumonia, developmental delay, and growth retardation. Genetic testing showed a novel pathogenic variant in the CREBBP gene which is consistent with the clinical diagnosis of RSTS.http://dx.doi.org/10.1155/2022/3388879 |
| spellingShingle | Rhea Camille R. Yumul Mary Anne D. Chiong Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant Case Reports in Genetics |
| title | Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant |
| title_full | Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant |
| title_fullStr | Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant |
| title_full_unstemmed | Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant |
| title_short | Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant |
| title_sort | rubinstein taybi syndrome in a filipino infant with a novel crebbp gene pathogenic variant |
| url | http://dx.doi.org/10.1155/2022/3388879 |
| work_keys_str_mv | AT rheacamilleryumul rubinsteintaybisyndromeinafilipinoinfantwithanovelcrebbpgenepathogenicvariant AT maryannedchiong rubinsteintaybisyndromeinafilipinoinfantwithanovelcrebbpgenepathogenicvariant |