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Nonsyndromic cleft palate phenotypes, familial recurrence and gestational history

Thais Francini Garbieri José Francisco Mateo-Castillo; Carlos Ferreira dos Santos; Lucimara Teixeira das Neves; Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas (5. 2017 Bauru)

Anais Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2017

Bauru Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo 2017

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  • Título:
    Nonsyndromic cleft palate phenotypes, familial recurrence and gestational history
  • Autor: Thais Francini Garbieri
  • José Francisco Mateo-Castillo; Carlos Ferreira dos Santos; Lucimara Teixeira das Neves; Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas (5. 2017 Bauru)
  • Assuntos: FISSURA LÁBIOPALATINA; EVOLUÇÃO FENOTÍPICA; HEREDITARIEDADE; RECIDIVA
  • É parte de: Anais Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2017
  • Notas: Disponível em: http://hrac.usp.br/wp-content/uploads/2018/11/ebook_anais_v_simposio_internacional_pg_hrac_2017.pdf
  • Notas Locais: MProd Digital
  • Descrição: Objectives: To investigate and describe the phenotype variations for nonsyndromic cleft palate (CP), also the genetic factors related to recurrence through family history and environmental factors by means of gestational history. Methods and Results: This retrospective study analyzed 165 medical records of individuals with isolated nonsyndromic CP registered at the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC-USP). Females were majority with 106 cases (64.24%) and the predominant type of CP was incomplete corresponding to 88.48% of the total sample, and among these incomplete CP, the clefts involving partial hard palate were the most prevalent. A small group (n=5) presented a phenotype variation little known. Familial recurrence was observed in 28.47% of 144 cases where information was available and in most cases there was only one other affected family member. The average age of mothers and fathers at conception was 26.9 and 31.4 years respectively. The percentage of previous abortions was 11.95% of the 92 reported cases and parental consanguinity was found in 3.29% of the 91 reported cases. The most frequently gestational intercurrence reported was the consumption of medication during pregnancy (25 in 154 reported cases). Conclusion: In this investigated group with nonsyndromic CP, the most common phenotype was incomplete CP (partial hard palate), and a small group presented a different phenotype variation. The percentage of familial recurrence was considerable. The consumption of medication during the pregnancy and the prevalence of the previous abortions were the data that called more attention in the gestational history.
  • Editor: Bauru Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo
  • Data de criação/publicação: 2017
  • Formato: p. 17.
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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