Holoprosencephaly, orofacial cleft, and orbital encephaloceles: a new autosomal recessive syndrome? (2017)
- Authors:
- USP affiliated authors: COSTA, ANTONIO RICHIERI DA - HRAC ; CEIDE, ROSELI MARIA ZECHI - HRAC ; JEHEE, FERNANDA MARIA SARQUIS ??????? - HRAC
- Unidade: HRAC
- Subjects: HOLOPROSENCEFALIA; FISSURA LÁBIOPALATINA; ANORMALIDADES CRANIOFACIAIS
- Language: Inglês
- Abstract: OBJECTIVES: To investigate the genetic etiology in a patient with holoprosencephalysyndrome. CASE REPORT: A boy was born through cesarean delivery at 39 weeks (2800g)after an uneventful pregnancy, presenting microbrachicephaly, small frontonasal angle,hypotelorism, broad bilateral, two cysts in the frontonasal region, bilateral cleft lip andpalate, anomalous palm folds, long fingers. He developed seizures and presents with severedevelopmental delay at 5 months of age. He died at 7 months. A skull MRI showed agenesisof the corpus callosum, suggestive signs of lobar holoprosencephaly, dilation of the aqueductand bilateral endolymphatic sac, bilateral cystic cocci-vestibular malformation, expansivelesion near the ethmoid bone and the right orbital cavity, suggestive of frontonasalmeningoencephalocele. G-banding karyotype and subtelomeric and microdeletion MLPA(Kits P064-C1, P036-E2 and P070-B2) were normal. Affymetrix CytoScan750K SNP-Arrayanalysis showed large regions of homozygosity (ROH) that summed up 25,4% of theautosomal genome. CONCLUSION: The complexity of the craniofacial findings observed inour patient, including holoprosencephaly and neural tube defects, to our knowledge, isunique, suggesting a hitherto not reported new syndrome. The high rate of ROH stronglysuggests a parental consanguinity and that the whole clinical picture could be attributed tothe action of one or more recessive gene(s). It was obtained informed consent according tothe protocols approved by the ethics committee of the HRAC-USP (CAAE34386014.4.0000.5441)
- Imprenta:
- Publisher: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo
- Publisher place: Bauru
- Date published: 2017
- Source:
- Título: Anais
- Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas
-
ABNT
CRÊS, Maria Cristina et al. Holoprosencephaly, orofacial cleft, and orbital encephaloceles: a new autosomal recessive syndrome? 2017, Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2017. Disponível em: https://repositorio.usp.br/directbitstream/bda96fd5-0a52-485e-b84e-4a521f951a3d/2947215.pdf. Acesso em: 28 dez. 2025. -
APA
Crês, M. C., Richieri-Costa, A., Monteiro, R. A. de C., Zechi-Ceide, R. M., Mazzeu, J. F., & Jehee, F. S. (2017). Holoprosencephaly, orofacial cleft, and orbital encephaloceles: a new autosomal recessive syndrome? In Anais. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/bda96fd5-0a52-485e-b84e-4a521f951a3d/2947215.pdf -
NLM
Crês MC, Richieri-Costa A, Monteiro RA de C, Zechi-Ceide RM, Mazzeu JF, Jehee FS. Holoprosencephaly, orofacial cleft, and orbital encephaloceles: a new autosomal recessive syndrome? [Internet]. Anais. 2017 ;[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/bda96fd5-0a52-485e-b84e-4a521f951a3d/2947215.pdf -
Vancouver
Crês MC, Richieri-Costa A, Monteiro RA de C, Zechi-Ceide RM, Mazzeu JF, Jehee FS. Holoprosencephaly, orofacial cleft, and orbital encephaloceles: a new autosomal recessive syndrome? [Internet]. Anais. 2017 ;[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/bda96fd5-0a52-485e-b84e-4a521f951a3d/2947215.pdf - Atypical phenotype caused by complex chromosome rearrangement in 5p15
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