Craniofrontonasal syndrome: Study of 41 patients

American Journal of Medical Genetics

Volumn 61, Issue 2, 1996, Pages 147-151

  Saavedra, Dolores ^a   Richieri Costa, Antonio ^b   Guion Almeida, Maria Leine ^b   Cohen Jr , M Michael ^c,d  

^a HOSPITAL GENERAL DR MANUEL GEA GONZÁLEZ   (Mexico)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c DALHOUSIE UNIVERSITY   (Canada)

^d DALHOUSIE UNIVERSITY   (Canada)

Author keywords

asymmetry; craniosynostosis; X linked inheritance

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BREAST HYPOPLASIA; CHILD; CLINICAL ARTICLE; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; FAMILIAL DISEASE; FEMALE; HAIR DISEASE; HUMAN; HYPERTELORISM; INFANT; MALE; MALOCCLUSION; PRIORITY JOURNAL; PTERYGIUM; SHORT LIMBED DWARFISM; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DIAGNOSIS, DIFFERENTIAL; FEMALE; HAIR; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; X CHROMOSOME;

EID: 0030048456     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U     Document Type: Article

References (32)

1. Cohen MM (1979): Craniofrontonasal dysplasia. BD:OAS 15(5B):85-89.
2. Cohen MM Jr (1986): "Craniosynostosis: Diagnosis, Evaluation, and Management." New York: Raven Press.
3. David JD, Poswillo D, Simpson D (1982): "The Craniosynostoses: Causes, Natural History, and Management." New York: Springer-Verlag.
4. Fragoso R cid-Garcia A, Hernandez A, Nazara Z, Cantú JM (1982): Frontonasal dysplasia in the Klippel-Feil syndrome: A new assorted malformation. Clin Genet 22:270-273.
5. Gorlin RJ, Cohen MM Jr, Levin LS (1990): "Syndromes of the Head and Neck." Third edition. New York: Oxford.
6. Grutzner E, Gorlin RJ (1988): Craniofrontonasal dysplasia: Phenotypic expression in females and males and genetic considerations. Oral Surg Oral Med Oral Pathol 65:436-444.
7. Hunter AGW, Rudd NL (1977): Craniosynostosis. II. Coronal synostosis: Its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. Teratology 15:301-309.
8. Hurst J, Baraitser M (1988): Craniofrontonasal dysplasia. J Med Genet 25:133-134.
9. Jones KL, Smith DW, Harvey MAS, Hall BD, Quan L (1975): Older paternal age and fresh gene mutation: Data on additional disorders. J Pediatr 86:84-88.
10. Kere J, Ritaven A, Marttinen E, Kaitila I (1990): Craniofrontal dysostosis: Variable expression in a three-generation family. Clin Genet 38:441-446.
11. Kumar D, Clark JW, Blank CE, Patton MA (1986): A family with craniofrontonasal dysplasia and fragile site 12q13 segregating independently. Clin Genet 29:530-537.
12. Kwee ML, Lindhout D (1983): Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: A new autosomal dominant mutant with reduced penetrance and variable expression? Clin Genet 24:200-205.
13. Kwee ML, Lindhout D (1988): Inheritance of cranio-fronto-nasal syndrome. Am J Med Genet 30:841-542.
14. Michels W, Derleth DP, Hoffman AD, Goldston AS (1989): Craniofrontonasal dysostosis with deafness and maxillary pterygia. Am J Med Genet 34:445-450.
15. Morris A, Palumbos JC, Carey JC (1987): Delineation of the male phenotype in craniofrontonasal syndrome. Am J Med Genet 27: 623-631.
16. Natarajan U, Baraitser M, Nicolaides K, Gosden C (1993): Craniofrontonasal dysplasia in two male sibs. Clin Dysmorphol 2: 360-364.
17. Pruzansky S (1977): Time: The fourth dimension in syndrome analysis applied to craniofacial malformations. In Bergsma D, Lowry RB (eds): "Natural History of Specific Birth Defects." New York: Alan R Liss for the National Foundation-March of Dimes, BD:OAS 13(3C):3-28.
18. Pruzansky S, Costaras M, Rollnick BR (1982): Radiocephalometric findings in a family with craniofrontonasal dysplasia. Birth Defects: Original Article Series 18(1):121-138.
19. Reardon W, Temple IK, Jones B, Baraitser M (1990): Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly? Clin Genet 38:233-236.
20. Reich EW, Cox RP, McCarthy JG, Becker MH, Genieser NB, Converse JM (1977): A new heritable syndrome with frontonasal dysplasia and associated extracranial anomalies. (Abstract) In Littlefield JW (ed): "Fifth International Conference on Birth Defects." Amsterdam: Excerpta Medica.
21. Reich EW, Wishnik MM, McCarthy JG, Risch N (1985): Craniofrontal dysplasia: Clinical delineation. Abstract. Am J Med Genet 37:A72.
22. Reynolds JF, Haas RJ, Edgerton MT, Thaddeus EK (1982): Craniofrontal dysplasia in a three generation kindred. J Craniofac Genet Dev Biol 2:233-238.
23. Rollnick B, Day D, Tissot R, Kaye C (1981): A pedigree: Possible evidence for the metabolic interference hypothesis. Am J Hum Genet 33:823-826.
24. Sax CM, Flannery DB (1986): Craniofrontonasal dysplasia: Clinical and genetic analysis. Clin Genet 29:508-515.
25. Sax CM, Flannery DB, Dineen MK, Brown JA (1984): Craniofrontonasal dysplasia: A semilethal mutation with similarities to the mouse T-locus. Am J Hum Genet Suppl 36:733.
26. Slover R, Sujansky E (1979): Frontonasal dysplasia with coronal craniosynostosis in three sibs. Birth Defects: Original Article Series 15(5B):75-83.
27. Šŕsěń S, Prispevok K (1986): Frontonasálnej dysplázii syndrómu stredneho oblicajového rázstepu. Cs Pediatr 41:523-525.
28. Stratton RF (1991): Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a US family. Am J Med Genet 39;78-80.
29. Teebi AS (1987): New autosomal dominant syndrome resembling craniofrontonasal dysplasia. Am J Med Genet 28:581-591.
30. Webster JP, Deming EG (1950): The surgical treatment of bifid nose. Plast Reconstr Surg 6:1-37.
31. Young ID (1987): Craniofrontonasal dysplasia. J Med Genet 24: 193-196.
32. Young ID, Moore JR (1984): Craniofrontonasal dysplasia - a distinct entity with lethality in the male? Clin Genet 28:473-475.