CASE REPORT |
|
Year : 2019 | Volume
: 23
| Issue : 1 | Page : 35-37 |
|
Novel genetic inheritance with a rare presentation of Adams–Oliver syndrome
Abdullah Abualait, Salaheldin Alfadni, Hala Edris, Mohammed Alshahrani, Mohamed Hanifa, Tariq Aziz, Wifag Alobeid, Ayed Al-Mordy
Department of Dermatology, King Fahad Armed Forces Hospital, Khamis Mushayt, Saudi Arabia
Correspondence Address:
Dr. Abdullah Abualait Department of Dermatology, King Fahad Armed Forces Hospital, Khamis Mushayt Saudi Arabia
 Source of Support: None, Conflict of Interest: None  | 1 |
DOI: 10.4103/jdds.jdds_28_18
|
|
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.
|
|
|
|
[FULL TEXT] [PDF]* |
|
 |
|