Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser-Winter syndrome

European Journal of Medical Genetics

Volumn 57, Issue 1, 2014, Pages 32-36

  Eker, Hatice Koçak ^a   Derinkuyu, Betül Emine ^a   Ünal, Sevim ^a   Masliah Planchon, Julien ^b,c   Drunat, Séverine ^b,c   Verloes, Alain ^b,c  

^a Ankara Child Diseases Hematology and Oncology Research and Training Hospital   (Turkey)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c INSERM   (France)

Author keywords

ACTB; Baraitser Winter syndrome; Cerebro fronto facial syndrome; Polymicrogyria

Indexed keywords

ANTIBIOTIC AGENT; DIGOXIN; DIURETIC AGENT; DNA;

ARTICLE; BARAITSER WINTER SYNDROME; CASE REPORT; CEREBRO FRONTO FACIAL SYNDROME; CHROMOSOME ANALYSIS; CONGENITAL HEART MALFORMATION; ECHOCARDIOGRAPHY; FACIES; FEMALE; FETUS ECHOGRAPHY; GENOTYPE PHENOTYPE CORRELATION; HAND MALFORMATION; HUMAN; INFANT; KIDNEY MALFORMATION; MALFORMATION SYNDROME; MICROGYRIA; NUCLEAR MAGNETIC RESONANCE IMAGING; RECURRENT INFECTION; URINARY TRACT INFECTION;

ACTB; BARAITSER-WINTER SYNDROME; CEREBRO-FRONTO-FACIAL SYNDROME; POLYMICROGYRIA;

ABNORMALITIES, MULTIPLE; ACTINS; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION, MISSENSE;

EID: 84892532464     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.10.005     Document Type: Article

References (19)

1. Baraitser M., Winter R.M. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J. Med. Genet. 1988, 25:41-43.
2. Ramer J.C., Lin A.E., Dobyns W.B., et al. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am. J. Med. Genet. 1995, 57:403-409.
3. Rossi M., Guerrini R., Dobyns W.B., et al. Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. Neuropediatrics 2003, 34:287-292.
4. Rivière J.B., van Bon B.W., Hoischen A., et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat. Genet. 2012, 44:440-444. S1-2.
5. Winter R.M. Cerebro-fronto-facial syndrome: three typesα. Clin. Dysmorphol. 2001, 10(2):79-80.
6. Guion-Almeida M.L., Richieri-Costa A. Acrocallosal syndrome: report of a Brazilian girl. Am. J. Med. Genet. 1992, 43:938-941.
7. Guion-Almeida M.L., Richieri-Costa A. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. Clin. Dysmorphol. 2001, 10:81-86.
8. Masuno M., Imaizumi K., Aida N., et al. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation. Clin. Dysmorphol. 2000, 9:59-60.
9. Fryns J.P., Aftimos S. New MCA/MR syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy and pachygyria of the frontal lobes. J. Med. Genet. 2000, 37:460-462.
10. Der Kaloustian V.M., Pelletier M., Costa T., et al. A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay. Clin. Dysmorphol. 2001, 10:87-93.
11. Milunsky J.M., Capin D.M. Cerebro-oculo-facial-lymphatic syndrome. Clin. Genet. 2003, 63:1-6.
12. Forzano F., Faravelli F., Di Rocco M. Cerebro-fronto-facial syndrome: report of a further case. Clin. Dysmorphol. 2004, 13(2):121-122.
13. Valente K.S., De Vincentiis S., Valente M. Severe epilepsy and pachygyria associated with peculiar facial traits characterize Fryns-Aftimos syndrome. J. Child Neurol. 2005, 20:160-163.
14. Di Donato N., Rump A., Koenig R., et al. Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. Eur. J. Hum. Genet. 2013 Jun 12, 10.1038/ejhg.2013.130.
15. Neyzi O., Günöz H., Furman H., et al. Body weight, height, head circumference and body mass index reference values, in Turkish children. Turk. J. Pediatr. 2008, 51.
16. Fryns J.P. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am. J. Med. Genet. 1996, 64:521-522.
17. Nunoi H., Yamazaki T., Kanegasaki S. Neutrophil cytoskeletal disease. Int. J. Hematol. 2001, 74:119-124.
18. Nunoi H., Yamazaki T., Tsuchiya H., et al. A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. Proc. Natl. Acad. Sci. U. S. A. 1999, 96:8693-8698.
19. Johnston J.J., Wen K.K., Keppler-Noreuil K., et al. Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. Hum. Mutat. 2013, 34:1242-1249.