References
- Garavelli L, Pedori S, Dal Zotto R, et al. Anophthalmos with limb anomalies (Waardenburg opththalmo (sic)-acromelic syndrome): report of a new Italian case with renal anomaly and review. Genet Couns. 2006;17(4):449–455.
- Mancini C, Zonta A, Botta G, et al. A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants. Eur J Med Genet. 2019;62(11):103578.
- Rainger J, van Beusekom E, Ramsay JK, et al. Correction: loss of the BMP antagonist, SMOC-1, causes ophthalmo-acromelic (waardenburg anophthalmia) syndrome in humans and mice. PLoS Genet. 2018;14(12):e1007866. doi:10.1371/journal.pgen.1007866
- Waardenburg PJ. Autosomal-Recessive Anophthalmia with Malformations of the Hands and Feet. Vol. I. Waardenburg AFaDK PJ, editor. Assen, The Netherlands: Royal Van Gorcum; 1961:773.
- Al Gazali LI, Sabarinathan DK, Khidir A. Microphthalmia and distal limb abnormalities in a child of consanguineous parents. Clin Dysmorphol. 1994;3:258–262. doi:10.1097/00019605-199407000-00013
- Kondo Y, Koshimizu E, Megarbane A, et al. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. Am J Med Genet A. 2013;161A(7):1543–1546. doi:10.1002/ajmg.a.35983
- Zhou F, Leder P, Zuniga A, et al. Formin1 disruption confers oligodactylism and alters Bmp signaling. Hum Mol Genet. 2009;18(13):2472–2482. doi:10.1093/hmg/ddp185
- Suzuki S, Marazita ML, Cooper ME, et al. Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet. 2009;84:406–411. doi:10.1016/j.ajhg.2009.02.002
- Okada I, Hamanoue H, Terada K, et al. SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet. 2011;88(1):30–41. doi:10.1016/j.ajhg.2010.11.012
- Fukahori K, Yamoto K, Saitsu H, et al. PORCN -related microphthalmia with limb anomalies: case report and literature review. Am J Med Genet A. 2023;191(2):636–639. doi:10.1002/ajmg.a.63048
- Lack EE. Extragonadal germ cell-tumours of the head and neck region: review of 16 cases. Hum Pathol. 1985;16:56–64. doi:10.1016/S0046-8177(85)80214-8
- Tapper D, Lack EE. Teratomas in infancy and childhood. A 54-year experience at the children’s hospital medical center. Ann Surg. 1983;198:398–410. doi:10.1097/00000658-198309000-00016
- Monticelli M, De Marco R, Garbossa D. Lenz microphthalmia syndrome in neurosurgical practice: a case report and review of the literature. Childs Nerv Syst. 2021;37(8):2713–2718. doi:10.1007/s00381-020-05035-1