Novel genetic inheritance with a rare presentation of Adams-Oliver syndrome
Adams-Oliver syndrome (AOS) is a rare heterogeneous inherited disorder, characterized by the combination of the congenital scalp and terminal transverse limb defects. Various expressions of AOS have been reported. Most cases of the syndrome appear to follow autosomal dominant inheritance, but autoso...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2019-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | Adams-Oliver syndrome (AOS) is a rare heterogeneous inherited disorder, characterized by the combination of the congenital scalp and terminal transverse limb defects. Various expressions of AOS have been reported. Most cases of the syndrome appear to follow autosomal dominant inheritance, but autosomal recessive inheritance has also been reported. However, genetic inheritance involving both autosomal recessive and dominant genes within the same patient was not previously reported. We report a newborn case of AOS with novel genetic profile and a rare clinical presentation. |
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| Item Description: | 2352-2410 2352-2429 10.4103/jdds.jdds_28_18 |