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1.
Rare occurrence of ectopia cordis in a Congolese neonate.
Ucima, Nancy; Tuka, Deborah Debola; Kimbongila, Mathonnet Matondo; Lumbala, Paul Kasuyi; Biselele, Thérèse; Tady, Bruno Muyala; Nkidiaka, Emmanuel Dimbu; Aloni, Michel Ntetani.
Pediatr Neonatol ; 56(2): 132-3, 2015 Apr.
Article in English | MEDLINE | ID: mdl-25239725

Subject(s)
Ectopia Cordis/diagnosis , Congo , Ectopia Cordis/etiology , Ectopia Cordis/surgery , Fatal Outcome , Female , Humans , Infant, Newborn
2.
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.
Mubungu, Gerrye; Lumaka, Aimé; Matondo, Rosette; Mbayabo, Gloire; Tuka, Deborah; Kayembe, Claudarche; Mulowhe, Didier; Molua, Antoine; Tady, Bruno-Paul; Nkidiaka, Emmanuel; Bunga, Paulo; Lukusa Tshilobo, Prosper; Devriendt, Koenraad.
Clin Case Rep ; 2(6): 250-3, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25548624

ABSTRACT

KEY CLINICAL MESSAGE: We report on three related Congolese popliteal pterygium syndrome (PPS) patients concordant only for the skinfold over the toenail. Mutation analysis revealed that the three affected individuals carried a heterozygous missense mutation in the Exon 4, NM_006147.2:c.250C>T; p.Arg84Cys. This is the first molecularly confirmed PPS family from central Africa.

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