References
- Wilcox WR, Coulter CP, Schmitz ML. Congenital limb deficiency disorders. Clin Perinatol. 2015;42(2):281–300. doi:https://doi.org/10.1016/j.clp.2015.02.004.
- Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, et al. Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. Am J Med Genet C Semin Med Genet. 2011;157C(4):305–20. doi:https://doi.org/10.1002/ajmg.c.30320.
- Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, et al. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet. 2005;37(5):468–70. doi:https://doi.org/10.1038/ng1548.
- Archie JG, Collins JS, Lebel RR. Quantitative standards for fetal and neonatal autopsy. Am J Clin Pathol. 2006;126(2):256–65. doi:https://doi.org/10.1309/FK9D-5WBA-1UEP-T5BB.
- Oyer CE, Sung CJ, Friedman R, Hansen K, Paepe MD, Pinar H, Singer DB. Reference values for valve circumferences and ventricular wall thicknesses of fetal and neonatal hearts. Pediatr Dev Pathol. 2004;7(5):499–505. doi:https://doi.org/10.1007/s10024-004-1117-6.
- Froster UG, Baird PA. Maternal factors, medications, and drug exposure in congenital limb reduction defects. Environ Health Perspect. 1993;101(Suppl 3):269–74. doi:https://doi.org/10.1289/ehp.93101s3269.
- Evans JA, Vitez M, Czeizel A. Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975–1984). Am J Med Genet. 1994;49(1):52–66. doi:https://doi.org/10.1002/ajmg.1320490111.
- Skibbens RV, Colquhoun JM, Green MJ, Molnar CA, Sin DN, Sullivan BJ, Tanzosh EE. Cohesinopathies of a feather flock together. PLoS Genet. 2013;9(12):e1004036. doi:https://doi.org/10.1371/journal.pgen.1004036.
- Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli MLG, Schnur RE, Manouvrier S, Blair E, et al. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet. 2010;47(1):30–7. doi:https://doi.org/10.1136/jmg.2009.068395.
- Başaran S, Yüksel A, Ermiş H, Kuseyri F, Aǧan M, Yüksel-Apak M. Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome? Am J Med Genet. 1994;51(1):77–80.
- Ragavan M, Reddy S, Kumar C. Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases. Pediatr Surg Int. 2010;26(10):1049–52. doi:https://doi.org/10.1007/s00383-010-2656-8.
- Samal SK, Rathod S, Ghose S. Tetra-phocomelia: the seal limb deformity—a case report. J Clin Diagn Res. 2015;9(2):QD01–2. doi:https://doi.org/10.7860/JCDR/2015/9118.5508.
- Shukla AK, Sanjay SC, Krishna L, Krishnappa N. Tetra-phocomelia: a rarest of rare case. J Clin Diagn Res. 2015;9(3):TD03–4. doi:https://doi.org/10.7860/JCDR/2015/11630.5664.
- Hay WW, Jr. Care of the infant of the diabetic mother. Curr Diab Rep. 2012;12(1):4–15. doi:https://doi.org/10.1007/s11892-011-0243-6.
- Warner T, Scullen TA, Iwanaga J, Loukas M, Bui CJ, Dumont AS, Tubbs RS. Caudal regression syndrome—a review focusing on genetic associations. World Neurosurg. 2020;138:461–7. doi:https://doi.org/10.1016/j.wneu.2020.03.057.