Cardiovascular Malformations in Adams-Oliver Syndrome

被引:11
作者
Digilio, M. Cristina [1 ]
Marino, Bruno [2 ]
Baban, Anwar [1 ]
Dallapiccola, Bruno [1 ]
机构
[1] IRCCS, Med Genet & Pediat Cardiol, Bambino Gesu, Pediat Hosp, Rome, Italy
[2] Univ Roma La Sapienza, Dept Pediat, Pediat Cardiol, I-00185 Rome, Italy
关键词
APLASIA-CUTIS-CONGENITA; NEURAL CREST; LIMB ANOMALIES; HEART DEFECT; MUTATIONS; COARCTATION; AORTA; COINCIDENCE; MECHANISMS; RBPJ;
D O I
10.1002/ajmg.a.36764
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1175 / 1177
页数:3
相关论文
共 50 条
  • [41] A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: Further evidence of vascular pathology?
    Piazza, AJ
    Blackston, D
    Sola, A
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 130A (02): : 172 - 175
  • [42] A case of Adams-Oliver syndrome associated with c.3190_3191del and c.4491
    Liu, Ling
    Zhou, Mengjie
    Mao, Jianmei
    Deng, Yuqi
    Cai, Yan
    META GENE, 2022, 31
  • [43] Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome
    Sezgin, B.
    Sibar, S.
    Findikcioglu, K.
    Sencan, A.
    Emmez, H.
    Baykaner, K.
    Ozmen, S.
    JOURNAL OF WOUND CARE, 2017, 26 (06) : 342 - 345
  • [44] A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary artery in newborn
    Rojnueangnit, Kitiwan
    Phawan, Thanyalak
    Khetkham, Thanitchet
    Techasatid, Wilaiporn
    Sirichongkolthong, Boonchu
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (02) : 658 - 664
  • [45] Herniation of the brain after conservative treatment of a large congenital skull defect in an infant with Adams-Oliver syndrome
    Troebs, Ralf-Bodo
    Barenberg, Karin
    Hemminghaus, Michael
    Guenther, Martin
    Neid, Matthias
    JOURNAL OF PEDIATRIC SURGERY, 2010, 45 (10) : 2064 - 2067
  • [46] Do children with Adams-Oliver syndrome require endocrine follow-up? New information on the phenotype and management
    Kalina, M. A.
    Kalina-Faska, B.
    Paprocka, J.
    Jamroz, E.
    Pyrkosz, A.
    Marszal, E.
    Malecka-Tendera, E.
    CLINICAL GENETICS, 2010, 78 (03) : 227 - 235
  • [47] APLASIA-CUTIS-CONGENITA ASSOCIATED WITH LIMB, EYE, AND BRAIN ANOMALIES IN SIBS - A VARIANT OF THE ADAMS-OLIVER SYNDROME
    ORSTAVIK, KH
    STROMME, P
    SPETALEN, S
    FLAGE, T
    WESTVIK, J
    VESTERHUS, P
    SKJELDAL, O
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 59 (01): : 92 - 95
  • [48] Severe phenotype in two half-sibs with Adams Oliver syndrome
    Sevilla-Montoya, Rosalba
    Rios-Flores, Braulio
    Moreno-Verduzco, Elsa
    Dominguez-Castro, Mauricio
    Rivera-Pedroza, Carlos I.
    Aguinaga-Rios, Monica
    ARCHIVOS ARGENTINOS DE PEDIATRIA, 2014, 112 (03): : E108 - E111
  • [49] Case report: Recombinant human epidermal growth factor gel plus kangfuxin solution in the treatment of aplasia cutis congenita in a case with Adams-Oliver syndrome
    Yang, Xiu-Fang
    Shi, Shang-Wen
    Chen, Kang
    FRONTIERS IN SURGERY, 2023, 9
  • [50] Terminal transverse deficiency of fingers, symbrachydactyly with anonychia of toes, and congenital scalp defect: Case report of a subject with Adams-Oliver syndrome
    Malik, Sajid
    Riaz, Hafiza Fizzah
    PAKISTAN JOURNAL OF MEDICAL SCIENCES, 2012, 28 (01) : 231 - 234