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CC BY-NC-ND 4.0 · AJP Rep 2017; 07(03): e174-e180
DOI: 10.1055/s-0037-1606364
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Birth Order and Maternal Age for Reported Cases of Severe Prenatal Cortical Hyperostosis (Caffey–Silverman Disease)

Rolf R. Engel
1   Departments of Pediatrics, Hennepin County Medical Center and University of Minnesota, Minneapolis, Minnesota
,
Raul F. Cifuentes
1   Departments of Pediatrics, Hennepin County Medical Center and University of Minnesota, Minneapolis, Minnesota
› Author Affiliations
Further Information

Publication History

24 July 2017

26 July 2017

Publication Date:
11 September 2017 (online)

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Abstract

The spectrum of prenatal cortical hyperostosis includes a mild phenotype that typically presents after 35 weeks of gestation, and a severe form that presents earlier. The skeletal and systemic manifestations of the severe phenotype remain unexplained. A review of reported cases indicates that older mothers and firstborn infants are overrepresented. This combination suggests decreased fertility. Fourteen years after the birth of the present case, his mother presented with renal failure from multiple myeloma raising the possibility that a maternal antibody may play a role in the etiology of severe prenatal Caffey disease. The present case report is also intended to alert clinicians to potential difficulties with tracheal intubation secondary to micrognathia from mandibular involvement during a critical growth period.

Keywords

prenatal Caffey disease - maternal age - birth order - difficult intubation

Note

This study was approved by the Human Subjects Research Committee at Hennepin County Medical Center. Neither author has a competing financial interest to declare.


 

  • References

  • 1 Benirschke K, Burton G, Baergen R. Pathology of the Human Placenta. 6th ed. Berlin: Springer Verlag; 2012
    Google Scholar
  • 2 Kamoun-Goldrat A, Martinovic J, Saada J. , et al. Prenatal cortical hyperostosis with COL1A1 gene mutation. Am J Med Genet A 2008; 146A (14) 1820-1824
    CrossrefPubMedGoogle Scholar
  • 3 Drinkwater BM, Crino JP, Garcia J, Ogburn J, Hecht JT. Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings. Prenat Diagn 1997; 17 (08) 773-776
    CrossrefPubMedGoogle Scholar
  • 4 Jenkinson E, Pfisterer WH, Latteier KK, Martin M. A prenatal diagnosis of osteopetrosis. Am J Roentgen 1943; 49 (04) 455-462
    PubMedGoogle Scholar
  • 5 de Jong G, Muller LM. Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease). Am J Med Genet 1995; 59 (02) 134-138
    CrossrefPubMedGoogle Scholar
  • 6 Labrune M, Guedj G, Vial M, Bessis R, Roset M, Kerbrat V. Maladie de Caffey à début anténatal. Arch Pediatr (Barc) 1983; 40: 39-43
    PubMedGoogle Scholar
  • 7 Burton KR, Glanc P. Prenatal presentation of lethal variant infantile cortical hyperostosis (Caffey disease). Ultrasound Q 2016; 32 (04) 338-341
    CrossrefPubMedGoogle Scholar
  • 8 Bennett HS, Nelson TR. Prenatal cortical hyperostosis. Br J Radiol 1953; 26 (301) 47-49
    CrossrefPubMedGoogle Scholar
  • 9 Bercau G, Gonzalez M, Afriat R, Lecolier B, de Kermadec S. La difficulté du diagnostic de la maladie de Caffey in utero. A propos d'un cas simulant l'ostéogenèse imparfaite létale. Ann Pediatr (Paris) 1991; 38 (01) 15-18
    PubMedGoogle Scholar
  • 10 Tülek F, Kahraman A, Keskin M, Kan Ö. Antenatal diagnosis of prenatal cortical hyperostosis: case report. Turkiye Klinkler J Gynecol Obs 2014; 24 (04) 253-256
    PubMedGoogle Scholar
  • 11 Darmency V, Thauvin-Robinet C, Rousseau T. , et al. Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease). Prenat Diagn 2009; 29 (09) 892-894
    CrossrefPubMedGoogle Scholar
  • 12 Srisantiroj N, Padungkiatwattana P, Sirijareonthai S. , et al. Prenatal cortical hyperosthosis: Caffey disease. 2010 . Available at: sonoworld.com/thefetus/page.aspx?id=2777 . Accessed March 21, 2017
    PubMedGoogle Scholar
  • 13 Pomerance HH, Wallis-Crespo C, Barness EG. Lethal infantile cortical hyperostosis. Fetal Pediatr Pathol 2005; 24 (02) 89-94
    CrossrefPubMedGoogle Scholar
  • 14 Langer R, Kaufmann HJ. Pränatale Diagnosestellung bei Caffey'scher Erkrankung (infantile kortikale Hyperostose). Klin Padiatr 1985; 197 (06) 473-476
    Article in Thieme ConnectPubMedGoogle Scholar
  • 15 Faul R. [Familial appearance of infantile cortical hyperostosis (Caffey-Silverman syndrome)]. Arch Kinderheilkd 1961; 164: 271-276
    PubMedGoogle Scholar
  • 16 Wright Jr JR, Van den Hof MC, Macken MB. Prenatal infantile cortical hyperostosis (Caffey's disease): a ‘hepatic myeloid hyperplasia-pulmonary hypoplasia sequence’ can explain the lethality of early onset cases. Prenat Diagn 2005; 25 (10) 939-944
    CrossrefPubMedGoogle Scholar
  • 17 Dahlstrom JE, Arbuckle SM, Kozlowski K. , et al. Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). Pathology 2001; 33 (04) 521-525
    CrossrefPubMedGoogle Scholar
  • 18 Al-Harbi M, Barakat N, Shabaan W, Yousef H. Prenatal Caffey disease case report and review of the literature. Med J Cairo Univ 2014; 82 (01) 625-628
    PubMedGoogle Scholar
  • 19 Hoen N, Cagneaux M, Combourieu D. , et al. Prenatal Caffey disease (prenatal cortical hyperostosis): severe forms with favorable outcome. Prenat Diagn 2015; 35 (04) 409-411
    CrossrefPubMedGoogle Scholar
  • 20 Schärer K, Szabo J. Familiäre infantile corticale hyperostose mit pränatalem Beginn. Roentgenfortschritte 1966; 106 (02) 154-163
    PubMedGoogle Scholar
  • 21 Herman TE. Antenatal-onset infantile cortical hyperostosis and nonimmune hydrops. J Perinatol 1996; 16 (2 Pt 1): 137-139
    PubMedGoogle Scholar
  • 22 Al-Tawil KI, Ahmed GS, Al-Hathal MM, Al-Zuwayed MA. Sporadic congenital infantile cortical hyperostosis (Caffey's disease). Am J Perinatol 1998; 15 (11) 629-633
    Article in Thieme ConnectPubMedGoogle Scholar
  • 23 Hochwald O, Osiovich H. Prenatal Caffey disease. Isr Med Assoc J 2011; 13 (02) 113-114
    PubMedGoogle Scholar
  • 24 Marshall GS, Edwards KM, Wadlington WB. Sporadic congenital Caffey's disease. Clin Pediatr (Phila) 1987; 26 (04) 177-180
    CrossrefPubMedGoogle Scholar
  • 25 Kroon ND, Smith F, Sanghavi R, Sarkar P. Prenatal cortical hyperostosis (Caffey disease) with Down syndrome. J Obstet Gynaecol 2009; 29 (01) 57-58
    CrossrefPubMedGoogle Scholar
  • 26 Cabañas-Perianes V, Macizo M, Salido E. , et al. ‘Management multiple myeloma during pregnancy: a case report and review’. Hematol Oncol 2016; 34 (02) 108-114
    CrossrefPubMedGoogle Scholar
  • 27 Jurczyszyn A, Olszewska-Szopa M, Vesole AS. , et al. Multiple myeloma in pregnancy—A review of the literature and a case series. Clin Lymphoma Myeloma Leuk 2016; 16 (03) e39-e45
    CrossrefPubMedGoogle Scholar
  • 28 Caffey J. Infantile cortical hyperostosis; a review of the clinical and radiographic features. Proc R Soc Med 1957; 50 (05) 347-354
    PubMedGoogle Scholar
  • 29 Sidbury Jr JB, Sidbury JB. Infantile cortical hyperostosis; an inquiry into the etiology and pathogenesis. N Engl J Med 1954; 250 (08) 309-314
    CrossrefPubMedGoogle Scholar
  • 30 Kozlowski K, Tsuruta T. Dysplastic cortical hyperostosis: a new form of lethal neonatal dwarfism. Br J Radiol 1989; 62 (736) 376-378
    CrossrefPubMedGoogle Scholar
  • 31 Suri M, Garrett C, Winter RM, Hall CM, Griffiths M. Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case. Clin Dysmorphol 2002; 11 (04) 267-270
    CrossrefPubMedGoogle Scholar
  • 32 Gensure RC, Mäkitie O, Barclay C. , et al. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest 2005; 115 (05) 1250-1257
    CrossrefPubMedGoogle Scholar
  • 33 Schweiger S, Chaoui R, Tennstedt C, Lehmann K, Mundlos S, Tinschert S. Antenatal onset of cortical hyperostosis (Caffey disease): case report and review. Am J Med Genet A 2003; 120A (04) 547-552
    CrossrefPubMedGoogle Scholar
  • 34 Snook SS, King Jr NW. Familial infantile cortical hyperostosis (Caffey's disease) in rhesus monkeys (Macaca mulatta). Vet Pathol 1989; 26 (03) 274-277
    CrossrefPubMedGoogle Scholar
  • 35 Uetsuka K, Suzuki T, Ogawa H, Sato H, Doi K, Nunoya T. A case of congenital hyperostosis in a newborn piglet. J Vet Med Sci 2012; 74 (02) 259-262
    CrossrefPubMedGoogle Scholar
  • 36 Hytönen MK, Arumilli M, Lappalainen AK. , et al. Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PLoS Genet 2016; 12 (05) e1006037
    CrossrefPubMedGoogle Scholar
  • 37 Lécolier B, Bercau G, Gonzalès M. , et al. Radiographic, haematological, and biochemical findings in a fetus with Caffey disease. Prenat Diagn 1992; 12 (08) 637-641
    CrossrefPubMedGoogle Scholar
  • 38 Nistala H, Mäkitie O, Jüppner H. Caffey disease: new perspectives on old questions. Bone 2014; 60: 246-251
    CrossrefPubMedGoogle Scholar
  • 39 Weiss BM, Abadie J, Verma P, Howard RS, Kuehl WM. A monoclonal gammopathy precedes multiple myeloma in most patients. Blood 2009; 113 (22) 5418-5422
    CrossrefPubMedGoogle Scholar
  • 40 Landgren O, Kyle RA, Pfeiffer RM. , et al. Monoclonal gammopathy of undetermined significance (MGUS) consistently precedes multiple myeloma: a prospective study. Blood 2009; 113 (22) 5412-5417
    CrossrefPubMedGoogle Scholar
  • 41 Kyle RA, Therneau TM, Rajkumar SV. , et al. A long-term study of prognosis in monoclonal gammopathy of undetermined significance. N Engl J Med 2002; 346 (08) 564-569
    CrossrefPubMedGoogle Scholar
  • 42 Kasinath BS, Katz AI. Delayed maternal lupus after delivery of offspring with congenital heart block. Arch Intern Med 1982; 142 (13) 2317
    CrossrefPubMedGoogle Scholar
  • 43 Dolfin T, Pomeranz A, Korzets Z. , et al. Acute renal failure in a neonate caused by the transplacental transfer of a nephrotoxic paraprotein: successful resolution by exchange transfusion. Am J Kidney Dis 1999; 34 (06) 1129-1131
    CrossrefPubMedGoogle Scholar
  • 44 Nageswara Rao AA, Rodriguez V, Long ME, Winters JL, Nichols WL, Pruthi RK. Transient neonatal acquired von Willebrand syndrome due to transplacental transfer of maternal monoclonal antibodies. Pediatr Blood Cancer 2009; 53 (04) 655-657
    CrossrefPubMedGoogle Scholar
  • 45 Laugel V, Goetz J, Wolff S, Beladdale J, Sibilia J, Messer J. Neonatal management of symptomatic transplacental cryoglobulinaemia. Acta Paediatr 2004; 93 (04) 556-558
    CrossrefPubMedGoogle Scholar
  • 46 Sibilia J, Feugeas O, Laugel V, Dreval A, Messer J, Goetz J. Successful management of neonatal cryoglobulinaemia after a gemellar pregnancy in a woman with symptomatic type I cryoglobulinaemia. Ann Rheum Dis 2004; 63 (02) 217-218
    CrossrefPubMedGoogle Scholar
  • 47 Chryssikopoulos A, Dalamaga AL, Hassiakos D. Monoclonal gammopathy of unknown significance in pregnancy. Clin Exp Obstet Gynecol 1997; 24 (01) 31-32
    PubMedGoogle Scholar
  • 48 Willmott F, Agarwal N, Heath M, Stevens J, Chakravarti S. Plasma cell myeloma diagnosed in pregnancy. BMJ Case Rep 2010; 2010: bcr0420102901
    PubMedGoogle Scholar
  • 49 Lee JC, Francis RS, Smith S, Lee R, Bingham C. Renal failure complicating myeloma in pregnancy. Nephrol Dial Transplant 2007; 22 (12) 3652-3655
    CrossrefPubMedGoogle Scholar
  • 50 Khot AS, Prince HM, Harrison SJ, Seymour JF. Myeloma and pregnancy: strange bedfellows?. Leuk Lymphoma 2014; 55 (04) 966-968
    CrossrefPubMedGoogle Scholar
  • 51 Roske G. Eine eigenartige Knochenerkrankung im Säuglingsalter. Monatschrift fur Kinderheilkd 1930; 47: 385-400
    PubMedGoogle Scholar
  • 52 Veller K, Laur A. Zur Ätiologie der infantilen kortikalen Hyperostose (Caffey-Syndrom). Fortschr Geb Rontgenstr Ver Rontgenprax 1953; 79 (10) 446-452
    PubMedGoogle Scholar
  • 53 Maclachlan AK, Gerrard JW, Houston CS, Ives EJ. Familial infantile cortical hyperostosis in a large Canadian family. Can Med Assoc J 1984; 130 (09) 1172-1174
    PubMedGoogle Scholar
  • 54 Harris VJ, Ramilo J. Caffey's disease: a case originating in the first metatarsal and review of a 12 year experience. AJR Am J Roentgenol 1978; 130 (02) 335-337
    CrossrefPubMedGoogle Scholar
  • 55 Woo K, Emery J, Peabody J. Cortical hyperostosis: a complication of prolonged prostaglandin infusion in infants awaiting cardiac transplantation. Pediatrics 1994; 93 (03) 417-420
    PubMedGoogle Scholar