2014, Number 1
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Rev Mex Pediatr 2014; 81 (1)
Apert syndrome and unilateral renal agenesis, a rare association?
Urdaneta-Carruyo E, Vargas-Cobos Y, Urdaneta-Contreras AV, Valero RJA , del Valle Alviárez PL, Contreras GPA
Language: Spanish
References: 34
Page: 18-21
PDF size: 165.48 Kb.
ABSTRACT
Apert syndrome is a genetic disorder of autosomal dominant transmission. It is characterized by craniofacial malformations that cause craniosynostosis, hypoplasia of the middle third of the face and severe symmetrical syndactyly of hands and feet. We describe this disease in a newborn, in whom unilateral renal agenesis was also observed, which exceptionally has been associated with the syndrome described, and review the medical literature on the topic.
REFERENCES
Jorde LB, Carey JC, Bamshad MJ. Medical genetic. 4th. ed. New York: US Elsevier; 2010.
Nussbaum RL, McInnes RR, Willard HF. Thompson & Thompson genetics in medicine. 6th ed. Philadelphia: Elsevier’s Health Sciences; 2007.
Fearon JA, Podner C. Apert syndrome: evaluation of a treatment algorithm. Plast Reconstr Surg. 2013; 131(1): 132-142.
Agochukwu NB, Solomon BD, Muenke M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst. 2012; 28(9): 1447-1463.
Tolarova MM, Harris JA, Ordway DE, Vaergervik K. Birth prevalence, mutation rate, sex ratio, parent’s age and ethnicity in Apert syndrome. Am J Med Genet. 1997; 72: 394-398.
Baumgartner KH. Kranken-Physionomik. Stuttgart: L. F. Rieger; 1842.
Wheaton SW. Two specimens of congenital cranial deformity in infants associated with fusion of the fingers and toes. Trans Pathol Soc London. 1894; 45: 238-239.
Apert E. De l’acrocephalo-syndactylie. Bull Soc Med Hop Paris. 1906; 23: 1310-1330.
Glaser RL, Broman KW, Schulman RL. The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutation in sperm. Am J Hum Genet. 2003; 73: 939-947.
Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G et al. Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet. 1996; 13(1): 48-53.
Panigrahi I. Craniosynostosis genetics: the mystery unfolds. Indian J Hum Genet. 2011; 17(2): 48-53.
Au PK, Kwok YK, Leung KY, Tang LY, Tang MH, Lau ET. Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome. Prenat Diagn. 2011; 31(2): 218-220.
Goriely A, McVean GA, Röjmyr M, Ingemarsson B, Wilkie AO. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science. 2003; 301(5633): 643-646.
Shotelersuk V, Mahatumarat C, Ittiwut C, Rojvachiranonda N, Srivuthana S, Wacharasindhu S et al. FGFR2 mutations among Thai children with Crouzon and Apert syndromes. Craniofac Surg. 2003; 14: 101-104.
Bonaventure J, El Ghouzzi V. Molecular and cellular bases of syndromic craniosynostoses. Expert Rev Mol Med. 2003; 5(4): 1-17.
Moes JA, Boyle JG, Flanagan JD, Mroch AR, Stein QP. Three-dimensional ultrasound to detect Apert syndrome and improve patient understanding. S D Med. 2011; 64(4): 125-127.
Lam H, Lo TK, Lau E, Chin R, Tang L. The use of 2-and 3-dimensional sonographic scans in the evaluation of cranial sutures: prenatal diagnosis of Apert syndrome. J Ultrasound Med. 2006; 25(11): 1481-1484.
Faro C, Chaoui R, Wegrzyn P, Levaillant JM, Benoit B, Nicolaides KH. Metopic suture in fetuses with Apert syndrome at 22-27 weeks of gestation. Ultrasound Obstet Gynecol. 2006; 27(1): 28-33.
David AL, Turnbull C, Scott R, Freeman J, Bilardo CM, van Maarle M et al. Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenat Diag. 2007; 27(7): 629-632.
Athanasiadis AP, Zafrakas M, Polychronou P, Florentin-Arar L, Papasozomenou P, Norbury G et al. Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling. Fetal Diagn Ther. 2008; 24(4): 495-498
Katzen JT, Mc Carthy JG. Syndromic and other congenital anomalies of the head and neck. Otolaryngol Clin North Am. 2000; 33: 1257-1284.
Cohen MM Jr, Kreiborg S. A clinical study of the craniofacial features in Apert syndrome. Int J Oral Maxillofac Surg. 1996; 25: 45-53.
Holten IWR, Smith AW, Bourne AJ, David DJ. The Apert syndrome hand: pathologic anatomy and clinical manifestations. Plast Reconstr Surg. 1997; 99: 1681-1687.
Upton J. Apert syndrome. Classification and pathologic anatomy of limb anomalies. Clin Plast Surg. 1991; 18(2): 321-355.
Sergi C, Stein H, Heep JG, Otto HF. A 19-week-old fetus with craniosynostosis, renal agenesis and gastroschisis: case report and differential diagnosis. Pathol Res Pract. 1997; 193(8): 579-585.
Greig AV, Britto JA, Abela C, Witherow H, Richards R, Evans RD et al. Correcting the typical Apert face: combining bipartition with monobloc distraction. Plast Reconstr Surg. 2013; 131(2): 219e-230e.
Paliga JT, Goldstein JA, Storm PB, Taylor JA. Monobloc Minus Le Fort II for single-stage treatment of the Apert phenotype. J Craniofac Surg. 2013; 24(2): 596-598.
Allam KA, Wan DC, Khwanngern K, Kawamoto HK, Tanna N, Perry A et al. Treatment of Apert syndrome: a long-term follow-up study. Plast Reconstr Surg. 2011; 127(4): 1601-1611.
Bakarat AJ, Drougas JG. Occurrence of congenital abnormalities of the kidney and urinary tract in 13775 autopsies. Urology. 1991; 38: 347-350.
Yalavarthy R, Parikh CR. Congenital renal agenesis: a review. Saudi J Kidney Dis Transplant. 2003; 14(1): 336-341.
Shapiro E, Goldfarb D, Ritchey ML. The congenital and acquired solitary kidney. Rev Urol. 2003; 5(1): 2-8.
van Vuuren SH, van der Doef R, Cohen-Overbeek TE, Goldschmeding R, Pistorius LR, de Jong TP. Compensatory enlargement of a solitary functioning kidney during fetal development. Ultrasound Obstet Gynecol. 2012; 40(6): 665-668.
Murthy AS. X-linked hypophosphatemic rickets and craniosynostosis. J Craniofac Surg. 2009; 20(2): 439-442.
Oktenli C, Saglam M, Zafer E, Gül D. Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndrome. Nephron. 2002; 92(2): 463-465.
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