Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
نویسندگان
چکیده
منابع مشابه
Adams-Oliver syndrome.
A new-born male baby with typical features of Adams-Oliver syndrome (AOS) is described. Adams-Oliver syndrome is the association of aplasia cutis congenita with terminal transverse limb reduction defects with or without cutis marmorata telangiectatica congenita. The patient presented with brachydactyly involving all the digits of his hands and shortening of both big toes along with aplasia cuti...
متن کاملAdams Oliver Syndrome and Congenital Deafness
Admas-Oliver syndrome is a rare autosomal dominant disease of congenital development defects association with aplasia cutis. All of 81 reported cases were of 32 group families. These two cases had congenital scalp cutis aplasia with developmental defect and hypoplasia of left foot digits in case 1.Congenital deaf-mute in both can added to the past known findings in this syndrome. Thoracic defor...
متن کاملA Case of Adams-Oliver Syndrome
Received March 19, 2009, Revised July 2, 2009, Accepted for publication July 27, 2009 Reprint request to: Deborah Lee, M.D., Department of Dermatology, Busan Paik Hospital, College of Medicine, Inje University, 633-165, Gaegeum-dong, Busanjin-gu, Busan 614-735, Korea. Tel: 82-51-8906135, Fax: 82-51-897-6391, E-mail: [email protected] Ann Dermatol Vol. 22, No. 1, 2010 DOI: 10.5021/ad.2010.22...
متن کاملA Case of Adams–Oliver Syndrome
Adams-Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected. It is commonly inherited as an autosomal dominant disorder but autosomal recessive and sporadic cases have also been reported. Here, we present a 10-year-old boy with extensive aplasia c...
متن کاملAdams-Oliver syndrome: a case report.
We report the case of an infant with Adams-Oliver syndrome, a rare disorder characterized by aplasia cutis congenita, defects of the limbs and extremities, and cutis marmorata telangiectatica. Other associated anomalies have been reported, such as facial dysmorphism, heart defects, and disorders of the central nervous system.
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2018
ISSN: 1059-7794
DOI: 10.1002/humu.23567