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Novel genetic inheritance with a rare presentation of Adams–Oliver syndrome
- Source :
- Journal of Dermatology and Dermatologic Surgery, Vol 23, Iss 1, Pp 35-37 (2019)
- Publication Year :
- 2019
- Publisher :
- Wolters Kluwer Medknow Publications, 2019.
-
Abstract
- 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.
- Subjects :
- adams–oliver syndrome
aplasia cutis congenita
brachydactyly
Dermatology
RL1-803
Subjects
Details
- Language :
- English
- ISSN :
- 23522410 and 23522429
- Volume :
- 23
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Journal of Dermatology and Dermatologic Surgery
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.4914d4edd2a249ebbfe698fc22be759c
- Document Type :
- article
- Full Text :
- https://doi.org/10.4103/jdds.jdds_28_18