Elements of morphology: General terms for congenital anomalies

American Journal of Medical Genetics, Part A

Volumn 161, Issue 11, 2013, Pages 2726-2733

  Hennekam, Raoul C ^a   Biesecker, Leslie G ^b   Allanson, Judith E ^c   Hall, Judith G ^d   Opitz, John M ^e   Temple, I Karen ^f   Carey, John C ^e  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

Anomaly; Association; Definitions; Deformation; Disruption; Dysmorphology; Dysplasia; Genotype; Malformation; Morphology; Nomenclature; Phenotype; Sequence; Syndrome; Variant

Indexed keywords

ACCURACY; ARTICLE; CONGENITAL MALFORMATION; CONSENSUS DEVELOPMENT; DEVELOPMENTAL BIOLOGY; GENETIC ANALYSIS; HUMAN; MEDICAL EXPERT; MEDICAL RESEARCH; MEDICAL TERMINOLOGY; MORPHOLOGY; PHENOTYPE; PRIORITY JOURNAL; RELIABILITY; STANDARDIZATION;

ANOMALY; ASSOCIATION; DEFINITIONS; DEFORMATION; DISRUPTION; DYSMORPHOLOGY; DYSPLASIA; GENOTYPE; MALFORMATION; MORPHOLOGY; NOMENCLATURE; PHENOTYPE; SEQUENCE; SYNDROME; VARIANT;

CONGENITAL ABNORMALITIES; HUMANS; PHENOTYPE; TERMINOLOGY AS TOPIC;

EID: 84886286539     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36249     Document Type: Article

References (54)

1. Aase JM. 1990. Principles of normal and abnormal embryogenesis. In: Diagnostic dysmorphology. New York and London: Plenum Medical Book Company. pp 5-13.
2. Allanson JE, Biesecker LG, Carey JC, Hennekam RC. 2009a. Elements of morphology: Introduction. Am J Med Genet A 149A:2-5.
3. Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M, Neri G. 2009b. Elements of morphology: Standard terminology for the head and face. Am J Med Genet A 149A:6-28.
4. Biesecker LG, Aase JM, Clericuzio C, Gurrieri F, Temple K, Toriello H. 2009. Elements of morphology: Standard terminology for the hands and feet. Am J Med Genet A 149A:93-127.
5. Braun-Quentin C, Billes C, Bowing B, Kotzot D. 1996. MURCS association: Case report and review. J Med Genet 33:618-620.
6. Brunner HG, van Driel MA. 2004. From syndrome families to functional genomics. Nat Rev Genet 5:545-551.
7. Carey JC, Cohen MM Jr, Curry CJ, Devriendt K, Holmes LB, Verloes A. 2009. Elements of morphology: Standard terminology for the lips, mouth and oral region. Am J Med Genet A 149A:77-92.
8. Carey JC. 2011. The clinical delineation of malformation syndromes: Historical prospective and future direction. Am J Med Genet A 155A:2066-2068.
9. Christianson C, Huff D, McPherson E. 1999. Limb deformations in oligohydramnios sequence: Effects of gestational age and duration of oligohydramnios. Am J Med Genet 86:430-433.
10. Cohen MM Jr. 1989. Syndromology: An update conceptual overview. I. Syndrome concepts, designations, and population characteristics. Int J Oral Maxillofac Surg 18:216-222.
11. Cohen MM Jr, Maclean RE. 1999. Should syndromes be defined phenotypically or molecularly? Resolution of the dilemma. Am J Med Genet 86:203-204.
12. Corona-Rivera JR, Rea-Rosas A, Santana-Ramirez A, Acosta-Leon J, Hernandez-Rocha J, Miquel-Jimenez K. 2010. Holoprosencephaly and genitourinary anomalies in fetal methotrexate syndrome. Am J Med Genet A 152A:1741-1746.
13. Cremer T, Cremer M, Dietzel S, Müller S, Solovei I, Fakan S. 2006. Chromosome territories-A functional nuclear landscape. Curr Opin Cell Biol 18:307-316.
14. Davis EE, Katsanis N. 2012. The ciliopathies: A transitional model into systems biology of human genetic disease. Curr Opin Genet Dev 22:290-303.
15. Dunn PM. 1976. Congenital postural deformities. Br Med Bull 32:71-76.
16. Flannery AB, Looman WS, Kemper K. 2012. Evidence-based care of the child with deformational plagiocephaly, part II: Management. J Pediatr Health Care 26:320-331.
17. Gorlin RJ, Cervenka J, Anderson RC, Sauk JJ, Bevis WD. 1970. Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. Am J Dis Child 119:176-178.
18. Graham JM Jr. 1988. Smith's recognizable patterns of human deformation. 2nd edition. Philadelphia, PA: WB Saunders Co.
19. Graham JM Jr, Badura RJ, Smith DW. 1980. Coronal craniostenosis: Fetal head constraint as one possible cause. Pediatrics 65:995-999.
20. Graham JM Jr, deSaxe M, Smith DW. 1979. Sagittal craniostenosis: Fetal head constraint as one possible cause. J Pediatr 95:747-750.
21. Hall BD, Graham JM Jr, Cassidy SB, Opitz JM. 2009. Elements of morphology: Standard terminology for the periorbital area. Am J Med Genet A 149A:29-39.
22. Hennekam RC. 2007. What to call a syndrome? Am J Med Genet A 143A:1021-1024.
23. Hennekam RC, Allanson JE, Biesecker LG, Carey JC, Opitz JM, Vilain E. 2013. Elements of morphology: Standard terminology for the external genitalia. Am J Med Genet A 161A:1238-1263.
24. Hennekam RC, Cormier-Daire V, Hall JG, Méhes K, Patton M, Stevenson RE. 2009. Elements of morphology: Standard terminology for the nose and philtrum. Am J Med Genet A 149A:61-76.
25. Hennekam RC, Biesecker LG. 2012. Next-generation sequencing demands next-generation phenotyping. Hum Mutat 33:884-886.
26. Hunter A, Frias J, Gillessen-Kaesbach G, Hughes H, Jones K, Wilson L. 2009. Elements of morphology: Standard terminology for the ear. Am J Med Genet A 149A:40-60.
27. Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK, Chong K, Mullikin JC, Biesecker LG. 2010. Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet 86:743-748.
28. Kurpinski KT, Magyari PA, Gorlin RJ, Ng D, Biesecker LG. 2003. Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. Am J Med Genet A 120A:1-4.
29. Levine D, Kilpatrick S, Damato N, Callen PW. 1996. Dolichocephaly and oligohydramnios in preterm premature rupture of the membranes. J Ultrasound Med 15:375-379.
30. Marden PM, Smith DW, McDonald MJ. 1964. Congenital anomalies in the newborn infant, including minor variants. J Pediatr 64:357-371.
31. Marik PK, Hoag JA. 2012. Self-concept in youth with congenital facial differences: Development and recommendations for medical providers. Pediatr Dermatol 29:549-554.
32. Masnari O, Landolt MA, Roessler J, Weingaertner SK, Neuhaus K, Meuli M, Schiestl C. 2012. Self- and parent-perceived stigmatisation in children and adolescents with congenital or acquired facial differences. J Plast Reconstr Aesthet Surg 65:1664-1670.
33. Merks JHM, van Karnebeek CD, Caron HN, Hennekam RC. 2003. Phenotypic abnormalities: Terminology and classification. Am J Med Genet A 123A:211-230.
34. Opitz JM. 1983. The developmental field concept in clinical genetics. J Pediatr 101:805-809.
35. Opitz JM, Czeizel A, Evans JA, Hall JG, Lubinsky MS, Spranger JW. 1987. Nosologic grouping in birth defects. In: Vogel F, Sperling K, editors. Proceedings of the VII international congress of human genetics. Berlin, Heidelberg: Springer-Verlag. pp 382-385.
36. Pinsky L. 1974. A community of human malformation syndromes involving the Mullerian ducts, distal extremities, urinary tract, and ears. Teratology 9:65-79.
37. Pollack IF, Losken HW, Fasick P. 1997. Diagnosis and management of posterior plagiocephaly. Pediatrics 99:180-185.
38. Qi BQ, Beasley SW, Williams AK, Fizelle F. 2000. Apoptosis during regression of the tailgut and septation of the cloaca. J Pediatr Surg 35:1556-1561.
39. Rando OJ. 2012. Daddy issues: Paternal effects on phenotype. Cell 151:702-708.
40. Robin NH, Biesecker LG. 2001. Considerations for a multiaxis nomenclature system for medical genetics. Genet Med 3:290-293.
41. Sanlaville D, Verloes A. 2007. CHARGE syndrome: An update. Eur J Hum Genet 15:389-399.
42. Slavotinek A, Biesecker LG. 2003. Genetic modifiers in human development and malformation syndromes, including chaperone proteins. Hum Mol Genet 12(S1):R45-R50.
43. Smith DW. 1975. Classification and nomenclature and naming of morphological defects. J Pediatr 87:162-164.
44. Smith DW. 1979. Commentary: Redundant skin folds in the infant-their origin and relevance. J Pediatr 94:1021-1022.
45. Solomon BD. 2011. VACTERL/VATER association. Orphanet J Rare Dis 6:56.
46. Spranger J. 2013. Syndromes A, syndromes B, syndromes C. Am J Med Genet A 161A:228-229.
47. Spranger J, Benirschke K, Hall JG, Lenz W, Lowry RB, Opitz JM, Pinsky L, Schwarzacher HG, Smith DW. 1982. Errors of morphogenesis: Concepts and terms. Recommendations of an International Working Group. J Pediatr 100:160-165.
48. Therapontosa C, Erskineb L, Gardnerc ER, Figgd WD, Vargesson N. 2009. Proc Natl Acad Sci 106:8573-8578.
49. Tidyman WE, Rauen KA. 2009. The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 19:230-236.
50. Towers M, Tickle C. 2009. Growing models of vertebrate limb development. Development 136:179-190.
51. Van Allen MI, Brown ZA, Plovie B, Hanson ML, Knopp RH. 1994. Deformations in infants of diabetic and control pregnancies. Am J Med Genet 53:210-215.
52. Vissers LE, Van Ravenswaaij CM, Admiraal R, Hurst J, De Vries B, Jansen I, Van der Vliet W, Huys E, De Jong P, Hamel B, Schoenmakers E, Brunner H, Veltman J, Van Kessel A. 2004. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955-957.
53. Worman HJ. 2012. Nuclear lamins and laminopathies. J Pathol 226:316-325.
54. Zankl A, Brooks D, Boltshauser E, Largo R, Schinzel A. 2004. Natural history of twin disruption sequence. Am J Med Genet 127A:133-138.