The craniofacial surgeon as amateur geneticist

Journal of Craniofacial Surgery

Volumn 13, Issue 1, 2002, Pages 3-17

  Mulliken, John B ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Antenatal; Craniofacial; Genetics; Syndrome; Terminology

Indexed keywords

ARTICLE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SURGERY; GENETIC DISORDER; HUMAN; HUMAN GENETICS; MEDICAL EDUCATION; MEDICAL SPECIALIST; PARENT COUNSELING; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; SURGEON; SURGICAL TECHNIQUE;

EID: 0036332349     PISSN: 10492275     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001665-200201000-00002     Document Type: Article

References (49)

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2. Syndrome designations
3. A unique point mutation in fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
4. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis
5. Molecular diagnosis of bilateral coronal synostosis
6. Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: Clinical spectrum, prevalence, and surgical outcome
7. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
8. A recurrent mutation, Ala391Glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans
9. Hydrocephalus and craniosynostosis
10. Prominent basal emissary foramina in syndromic craniosynostosis: Correlation with phenotypic and molecular diagnosis
11. Enigma of raised intracranial pressure in patients with complex craniosynostosis: The role of abnormal intracranial venous drainage
12. Let's call it "crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology
13. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
14. A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly
15. Should syndromes be defined phenotypically or molecularly? Resolution of the dilemma
16. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome
17. Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery
18. Genetic study of scaphocephaly
19. Syndromal and nonsyndromal primary trigonocephaly: Analysis of a series of 237 patients
20. Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3
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22. Craniosynostosis: Molecular testing-a necessity for counseling
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24. Genetic heterogeneity of Saethre-Chotzen syndrome due to Twist and FGFR mutations
25. Integration of FGF and TWIST in calvarial bone and suture development
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27. Craniofrontonasal syndrome
28. A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22
29. Analysis of fronto-orbital advancement for Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes
30. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
31. A newly recognized autosomal dominant craniosynostotic syndrome
32. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
33. Classification of craniofacial malformations
34. Hypertelorism: Nosologic analysis of 90 patients
35. Robin sequences and complexes: Causal heterogeneity and pathogenetic/phenotypic variability
36. Clinical and molecular genetics of Sticker syndrome
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38. Splicing mutations at 54 exons in the COL11A1 gene cause Marshall syndrome but other mutations cause overlapping Marshall/Stickler phenotypes
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42. A family with dominant oculoauriculovertebral spectrum
43. Mutations in the SALL 1 putative transcription factor gene cause Townes-Brocks syndrome
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45. Further delineation of the branchio-oculo-facial syndrome
46. Prenatal sonographic diagnosis of major craniofacial abnormalities