EEC syndrome is an autosomal dominant genetic disease with incomplete penetrance characterized by ectrodactyly, ectodermal dysplasia, and cleft lip/palate; these manifestations can differently occur in the affected subjects and can also be associated with other anomalies, such as in the urogenital tract.
We reported the case of a newborn with prenatal diagnosis of EEC type 3 associated with severe cardiac abnormalities (Tetralogy of Fallot), high esophageal atresia with fistula and penoscrotal hypospadias.
SharmaD, KumarC, BhaleraoS, PanditaA, ShastriS, SharmaPEctrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC Syndrome) with tetralogy of Fallot: A Very Rare Combination. Front Pediatr. 2015;3:51.
BrunnerHG, HamelBC, VanBokhoven HThe p63 gene in EEC and other syndromes. J Med Genet. 2002;39(6):377–81.
5.
BertolaDR, KimCA, AlbanoLM, SchefferH, MeijerR, vanBokhoven HMolecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Clin Genet. 2004;66(1):79–80.
6.
SuttonVR, van BokhovenHTP63-Related Disorders. 2010 Jun 8 [updated 2021 Apr 1]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Gene Reviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.
7.
TropeBM, SalomãoJN, CostaVD, VerdeRB, BarrosDSDo you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. An Bras Dermatol. 2010;85(4):573–5.
8.
JonesKL, AdamMPEvaluation and diagnosis of the dysmorphic infant. Clin Perinatol. 2015;42(2):243–61.
9.
RiosLT, AraujoJúnior E, CaetanoAC, NardozzaLM, MoronAF, MartinsMGPrenatal Diagnosis of EEC Syndrome with “Lobster Claw”Anomaly by 3D Ultrasound. J Clin Imaging Sci. 2012;2:40.
ClementsSE, TechanukulT, ComanD, MellerioJE, McGrathJAMolecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: Five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. Br J Dermatol. 2010;162(1):201–7.
12.
KüsterW, MajewskiF, MeineckePEEC syndrome without ectrodactyly? Report of 8 cases. Clin Genet. 1985;28(2):130–5.
13.
MalvankarDD, SacchidanandS, MallikarjunMEctrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: A rare case report. Dermatol Online J. 2012;18(2):5.
14.
RosanoA, BottoLD, OlneyRS, KhouryMJ, RitvanenA, GoujardJ, et al.Limb defects associated with major congenital anomalies: Clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems. Am J Med Genet. 2000;93(2):110–6.
15.
RollnickBR, HooJJGenitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. Am J Med Genet. 1988;29(1):131–6.
16.
EnriquezA, KrivanekM, FlöttmannR, PetersH, WilsonMRecurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation. Am J Med Genet A. 2016;170(9):2372–6.
17.
HatipoğluN, KurtoğluS, BüyükayhanD, AkçcakuşMHypothalamo-pituitary insufficiency associated with ectrodactyly-ectodermal dysplasia-clefting syndrome. J Clin Res Pediatr Endocrinol. 2009;1(5):252–5.
18.
JerniganEG, StrasslePD, StebbinsRC, MeyerRE, NelsonJSEffect of concomitant birth defects and genetic anomalies on infant mortality in tetralogy of Fallot. Birth Defects Res. 2017;109(14):1154–65.
19.
JerniganEG, StrasslePD, StebbinsRC, MeyerRE, NelsonJSEffect of concomitant birth defects and genetic anomalies on infant mortality in tetralogy of Fallot. Birth Defects Res. 2017;109(14):1154–65.
20.
KarlTR, StockerCTetralogy of Fallot and its variants. Pediatr Crit Care Med. 2016;17(8 Suppl 1):S330–6.
21.
StollC, AlembikY, DottB, RothMPAssociated anomalies in cases with esophageal atresia. Am J Med Genet A. 2017;173(8):2139–57.
MullasseryD, LlewellynRS, AlmondSL, JesudasonEC, LostyPDOesophageal atresia with cleft lip and palate: A marker for associated lethal anomalies? Pediatr Surg Int2008;24(7):815–7.
24.
PiroE, SchierzIAM, GiuffrèM, CuffaroG, LaPlaca S, AntonaV, et al.Etiological heterogeneity and clinicalvariability in newborns with esophageal atresia. Ital J Pediatr. 2018;44(1):19.
25.
RoelfsemaNM, CobbenJMThe EEC syndrome: A literature study. Clin Dysmorphol. 1996;5(2):115–27.
26.
ObelN, HansenB, BlackFTNormal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome). Clin Genet. 1993;43(3):146–9.
