Adams-Oliver syndrome: About a case

被引:0
作者
Itongwa, John Mambo [1 ,2 ]
Colombe, Moise Mbaluku [1 ,2 ]
Bukuru, Helene [3 ,4 ]
Deogratias, Niyongeko [3 ,4 ]
Matabaro, Cedric Irenge [5 ,6 ]
Opondjo, Fernand Manga [1 ,2 ]
Bianga, Viviane Feza [1 ,2 ]
Alice, Ndayishimye [3 ,4 ]
机构
[1] Official Univ Bukavu, Fac Med, Pediat Dept, Bukavu, DEM REP CONGO
[2] Univ Clin Bukavu, Official Univ Bukavu, Pediat Dept, Bukavu, DEM REP CONGO
[3] Univ Burundi, Fac Med, Pediat Dept, Bujumbura, Burundi
[4] Univ Burundi, Ctr Hosp Univ Kamenge CHUK, Fac Med, Pediat Dept, Bujumbura, Burundi
[5] Univ Burundi, Ctr Hosp Univ Kamenge CHUK, Fac Med, Gynecol Dept, Burundi, Burundi
[6] Official Univ Bukavu, Fac Med, Gynecol Dept, Bukavu, DEM REP CONGO
来源
CLINICAL CASE REPORTS | 2024年 / 12卷 / 04期
关键词
aplasia cutis congenita; intrauterine growth retardation; limb anomalies; newborns; MUTATIONS; VARIANT; LIMB;
D O I
10.1002/ccr3.8685
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
We report the case of a newborn with aplasia cutis congenita characterized by the absence of skin in the left parietal region, superficial dilatation of the scalp veins, facial dysmorphia, limb anomalies, and severe intrauterine growth retardation. Maternal milk enabled the baby to gain weight, and dermatological treatment was performed for scarring of the vertex. Psychomotor development and stature were spectacular. This case illustrates the clinical variability of this condition and the need for multidisciplinary management.
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页数:6
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共 22 条
  • [1] Adams Forrest H., 1945, JOUR HEREDITY, V36, P3
  • [2] Amor DJ, 2000, AM J MED GENET, V93, P328, DOI 10.1002/1096-8628(20000814)93:4<328::AID-AJMG13>3.0.CO
  • [3] 2-0
  • [4] Adams-Oliver syndrome, intestinal obstruction and heart defects: a case series of aplasia cutis congenita
    Baroudi, Ihsan
    Alakhras, Ola
    Douri, Thaer
    Alkhani, Nedal
    [J]. OXFORD MEDICAL CASE REPORTS, 2022, 2022 (01): : 20 - 23
  • [5] Aplasia cutis congenita: Update and management
    Belkhou, A.
    Francois, C.
    Bennis, Y.
    Duquennoy-Martinot, V.
    Guerreschi, P.
    [J]. ANNALES DE CHIRURGIE PLASTIQUE ESTHETIQUE, 2016, 61 (05): : 450 - 461
  • [6] Aplasia cutis congenita: approach to evaluation and management
    Browning, John C.
    [J]. DERMATOLOGIC THERAPY, 2013, 26 (06) : 439 - 444
  • [7] Adams-Oliver syndrome and cutis marmorata telangiectatica congenita
    Kojmane, W.
    Hmami, F.
    Atmani, S.
    [J]. ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2019, 146 (03): : 223 - 225
  • [8] Lehman A., 2023, GeneReview, P1
  • [9] Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
    Meester, Josephina A. N.
    Sukalo, Maja
    Schroeder, Kim C.
    Schanze, Denny
    Baynam, Gareth
    Borck, Guntram
    Bramswig, Nuria C.
    Duman, Duygu
    Gilbert-Dussardier, Brigitte
    Holder-Espinasse, Muriel
    Itin, Peter
    Johnson, Diana S.
    Joss, Shelagh
    Koillinen, Hannele
    McKenzie, Fiona
    Morton, Jenny
    Nelle, Heike
    Reardon, Willie
    Roll, Claudia
    Salih, Mustafa A.
    Savarirayan, Ravi
    Scurr, Ingrid
    Splitt, Miranda
    Thompson, Elizabeth
    Titheradge, Hannah
    Travers, Colm P.
    Van Maldergem, Lionel
    Whiteford, Margo
    Wieczorek, Dagmar
    Vandeweyer, Geert
    Trembath, Richard
    Van Laer, Lut
    Loeys, Bart L.
    Zenker, Martin
    Southgate, Laura
    Wuyts, Wim
    [J]. HUMAN MUTATION, 2018, 39 (09) : 1246 - 1261
  • [10] Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
    Meester, Josephina A. N.
    Southgate, Laura
    Stittrich, Anna-Barbara
    Venselaar, Hanka
    Beekmans, Sander J. A.
    den Hollander, Nicolette
    Bijlsma, Emilia K.
    den Enden, Appolonia Helderman-van
    Verheij, Joke B. G. M.
    Glusman, Gustavo
    Roach, Jared C.
    Lehman, Anna
    Patel, Millan S.
    de Vries, Bert B. A.
    Ruivenkamp, Claudia
    Itin, Peter
    Prescott, Katrina
    Clarke, Sheila
    Trembath, Richard
    Zenker, Martin
    Sukalo, Maja
    Van Laer, Lut
    Loeys, Bart
    Wuyts, Wim
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2015, 97 (03) : 475 - 482