Clinical and genetic aspects of trigonocephaly: A study of 25 cases

American Journal of Medical Genetics

Volumn 117 A, Issue 2, 2003, Pages 127-135

  Azimi, Cyrus ^a,b   Kennedy, Shelley J ^a   Chitayat, David ^a   Chakraborty, Pranesh ^a   Clarke, Joe T R ^a   Forrest, Christopher ^a   Teebi, Ahmad S ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

I cell disease; Jacobsen syndrome; Metopic synostosis; Opitz C trigonocephaly syndrome; Say Meyer syndrome

Indexed keywords

CHROMOSOME 11Q; CHROMOSOME 13Q; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; FEMALE; FGFR2 GENE; FGFR3 GENE; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTAL BONE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; JACOBSEN SYNDROME; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MULTIPLE MALFORMATION SYNDROME; NEWBORN; OPITZ C TRIGONOCEPHALY SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINOBLASTOMA; REVIEW; SAY MAYER SYNDROME; SEX RATIO; SKULL MALFORMATION; TELOMERE; TRIGONOCEPHALY; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CONGENITAL MALFORMATION; FATALITY; GENETICS; PATHOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CRANIOFACIAL ABNORMALITIES; CRANIOSYNOSTOSES; FATAL OUTCOME; FEMALE; FRONTAL BONE; HUMANS; INFANT; INFANT, NEWBORN; MALE; SYNDROME;

EID: 0041819790     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10021     Document Type: Review

References (41)

1. Al-Sannaa N, Forrest CR, Teebi AS. 2001. Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defects, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: New acrocraniofacial dysostosis syndrome? Am J Med Genet 101:279-282.
2. Anderson FM, Geiger L. 1965. Craniosynostosis. A survey of 204 cases. J Neurosurg 22:229-240.
3. Christ LA, Crowe CA, Micale MA, Conroy JM, Schwartz S. 1999. Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. Am J Hum Genet 65:1387-1395.
4. Christian JC, Demyer W, Franken EA, Huff JS, Khairi S, Reed T. 1977. X-linked skeletal dysplasia with mental retardation. Clin Genet 11:128-136.
5. Chu TW, Teebi AS, Gibson L, Breg WR, Yang-Feng TL. 1994. FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype. Am J Med Genet 52:92-96.
6. Cohen MM Jr, MacLean RE. 2000. Craniosynostosis: Diagnosis, evaluation, and management. 2nd ed. New York: Oxford University Press.
7. Cristofori G, Filippi G. 1992. Saethre-Chotzen syndrome with trigonocephaly. Am J Med Genet 44:611-614.
8. De Grouchy J, Turleau C. 1984. Clinical Atlas of Human Chromosomes. 2nd ed. New York: John Wiley & Sons.
9. Dlouhy SR, Christian JC, Haines JL, Conneally PM, Hodes ME. 1987. Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter. Hum Genet 75:136-139.
10. Frydman M, Kauschansky A, Elian E. 1984. Trigonocephaly: A new familial syndrome. Am J Med Genet 18:55-59.
11. Fryns JP, Vogels A, Van den Berghe H. 1990. Craniosynostosis and low middle frequency perceptive deafness in mother and son. A distinct entity? Genet Couns 1:63-66.
12. Graham JM Jr, Smith DW. 1980. Metopic craniostenosis as a consequence of fetal head constraint: Two interesting experiments of nature. Pediatrics 65:1000-1002.
13. Graham JM Jr, De Saxe M, Smith DW. 1979. Sagittal craniostenosis: Fetal head constraint as one possible cause. J Pediatr 95:747-750.
14. Hennekam RCM, Van den Boogaard MJ. 1990. Autosomal dominant craniosynostosis of the sutura metopica. Clin Genet 38:374-377.
15. Hersh JH, Groom KR, Yen FF, Verdi GD. 1998. Changing phenotype in Floating-Harbor syndrome. Am J Med Genet 76:58-61.
16. Hirano A, Akita S, Fujii T. 1995. Craniofacial deformities associated with juvenile hyperthyroidism. Cleft Palate Craniofacial J 32:328-333.
17. Hunter AGW, Rudd NL. 1977. Craniosynostosis: II. Coronal synostosis: Its familial characteristics and associated clinical findings in 109 patients lacking bilateral polydactyly or syndactyly. Teratology 15:301-310.
18. Hunter AGW, Rudd NL, Hoffmann HJ. 1976. Trigonocephaly and associated minor anomalies in mother and son. Am J Med Genet 13:77-79.
19. Lajeunie E, Le Merrer M, Marchac D, Renier D. 1998a. Syndromal and nonsyndromal primary trigonocephaly: Analysis of a series of 237 patients. Am J Med Genet 75:211-215.
20. Lajeunie E, Le Merrer M, Arnaud E, Marchac D, Renier D. 1998b. Trigonocephaly: Isolated, associated and syndromic forms. Genetic study in a series of 278 patients. Arch Pediatr 5:873-879.
21. Leegte B, Kerstjens-Frederikse WS, Deelstra K, Begeer JH, Van Essen AJ. 1999. 11q-syndrome: Three cases and a review of the literature. Genet Couns 10:305-313.
22. Leonard CO, Ralston C, Carey JC, Morales L. 1987. Craniosynostosis and facial dysmorphism due to maternal graves disease. Clin Res 35:225A.
23. Lewanda AF, Morsey S, Reid CS, Jabs EW. 1995. Two craniosynostotic patients with 11q deletions, and review of 48 cases. Am J Med Genet 59:193-198.
24. Lindor NM, Ramin KD, Kleinberg F, Bite U. 2000. Severe end of Opitz trigonocephaly C syndrome. Am J Med Genet 92:363-365.
25. McGaughran J, Aftimos S, Oei P. 2000. Trisomy of 3 pter in a patient with apparent C (trigonocephaly) syndrome. Am J Med Genet 94:311-315.
26. Omran H, Hildebrandt F, Korinthenberg R, Brandis M. 1997. Probable Opitz trigonocephaly C syndrome with medulloblastoma. Am J Med Genet 69:395-399.
27. Opitz JM, Johnson RC, McCreadie SR, Smith DW. 1969. The C syndrome of multiple congenital anomalies. Birth Defects 5(2):161-166.
28. Patriquin HB, Kaplan P, Kind HP, Giedion A. 1977. Neonatal mucolipidosis II (I-cell disease): Clinical and radiologic features in three cases. Am J Roentgenol 129:37-43.
29. Pivnick EK, Velagaleti GVN, Wilroy RS, Smith ME, Rose SR, Tipton RE, Tharapel AT. 1996. Jacobsen syndrome: Report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. J Med Genet 33:772-778.
30. Prager B, Hinkel GK, Lorenz P. 1991. Opitz' trigonocephaly syndrome. Kinderarztl Prax 59:364-368.
31. Sadove AM, Kalsbeck JE, Ellis FD, Eppley BL, Elluru R. 1991. Orbital teratoma associated with trigonocephaly. Plast Reconstr Surg 88:1059-1063.
32. Sargent C, Burn J, Baraitser M, Pembrey ME. 1985. Trigonocephaly and the Opitz C syndrome. J Med Genet 22:39-45.
33. Say B, Meyer J. 1981. Familial trigonocephaly associated with short stature and developmental delay. Am J Dis Child 135:711-712.
34. Schneider EN, Bogdanow A, Goodrich JT, Marion RW, Cohen MM Jr. 2000. Fronto-ocular syndrome: Newly recognized trigonocephaly syndrome. Am J Med Genet 93:89-93.
35. Shillito J Jr, Matson DD. 1968. Craniosynostosis: A review of 519 surgical patients. Pediatrics 41:829-853.
36. Taber P, Gyepes MT, Philippart M, Ling S. 1973. Roentgenographic manifestations of Leroy's I-cell disease. Am J Roentgenol Radium Ther Nucl Med 118:213-221.
37. Tartaglia M, Bordoni V, Velardi F, Basile RT, Saulle E, Tenconi R, Di Rocco C, Battaglia PA. 1999. Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis. Child's Nerv Syst 15:389-394.
38. Teebi AS. 1991. Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia in sibs. Am J Med Genet 38:529-531.
39. Teebi AS, Gibson L, McGrath J, Meyn MS, Breg WR, yang-Feng TL. 1993. Molecular and cytogenetic characterization of 9q-abnormalities. Am J Med Genet 46:288-292.
40. Yamada H, Ohya M, Higeta T, Kinoshita S. 1987. Craniosynostosis and hydrocephalus in I-cell disease (mucolipidosis II). Child's Nerv Syst 3:55-57.
41. Zakarija M, McKenzie JM, Hoffman WH. 1986. Prediction and therapy of intrauterine and late-onset neonatal hyperthyroidism. J Clin Endocr Metab 62:368-371.