Síndrome orofaciodigital tipo I. Expresión fenotípica variable

Boldrini, María Pía; Giovo, María Elsa; Bogado, Claudia

doi:10.5546/aap.2014.e242

Cited by 1 publication

(1 citation statement)

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“…Since clinical diagnosis of these CL/P-associated syndromes has a wide and heterogeneous phenotypic range, no precise data are available. Clinicians must have prior training, and molecular examinations are required to confirm the diagnosis and to establish the specific prevalence of each disease in Colombia (Lidral et al, 2008;Shprintzen, 2008;Boldrini et al, 2014;Fakhouri et al, 2014;Arias et al, 2015;Bruel et al, 2017;Edel et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

Clinical and Descriptive Study of Orofacial Clefts in Colombia: 2069 Patients From Operation Smile Foundation

Espinosa

Martínez

Molina

et al. 2021

The Cleft Palate Craniofacial Journal

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Objective: To describe the population of patients with cleft lip and/or palate (CL/P) in terms of cleft phenotypes, gender, age, ethnic group, family history, clinical presentation (syndromic vs nonsyndromic), some environmental and behavioral factors, and some clinical features. Design: Descriptive retrospective study. Setting: Patients attending the genetics counseling practice in Operation Smile Foundation, Bogotá, Colombia, for over 8 years. Participants: No screening was conducted. All patients requiring clinical genetics assessment in Operation Smile Foundation were included in the study. Results: Left cleft lip and palate (CLP) and nonsyndromic forms were the most frequent types of malformations in this population. Psychomotor retardation and heart disease were the most frequent comorbidities in these patients. A low proportion of mothers exposed to passive smoking during pregnancy was observed and low birth weight accounted for an important number of cases. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CLP in this population. Conclusions: In this study, the most frequent type of CL/P was the nonsyndromic complete left CLP. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CL/P in this population.

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