BRPF1 gene mutation caused intellectual developmental disorder with dysmorphic facies and ptosis: a case report and literature review / 中华实用儿科临床杂志

The clinical data of a child with intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) admitted to the Department of Pediatrics of Gansu Provincial People′s Hospital in December 2020 were retrospectively analyzed and related literatures were reviewed.The female child was at the age of 6 months, with birth weight of 2.8 kg, hypodystonia, underdevelopment, blepharophimosis, slightly ptosis and six fingers deformity.Whole exome sequencing showed that the patient′s BRPF1 gene c. 1631G>A (p.Trp544Ter) heterozygous pathogenic variant was a novel IDDDFP-related mutation, which was consistent with the phenotype and inheritance pattern of the subject.A total of 27 patients with IDDDFP were found in 6 articles, including 4 pedigrees.The patients displayed different degrees of mental disability and facial deformities, psychomotor and language retardation, epilepsy and other clinical features.When the clinical manifestations of children are mental retardation, ptosis, psychomotor and language retardation, and epilepsy, IDDDFP should be considered, and gene sequencing can make a clear diagnosis.

Evolución del concepto de deformidad facial / Evolution of the concept of facial deformity

RESUMEN Introducción: La cara es el soporte anatómico para el funcionamiento de los sentidos y piedra angular para la integración social. El paradigma biologicista se mantiene como base para la conceptualización teórica de las deformidades faciales, mientras el enfoque biopsicosocial de la salud, no se evidencia con fuerza para las deformidades faciales, se efectuó una revisión narrativa de la literatura, en las bases de datos: SciELO, PubMed, Redalyc e Infomed y con el buscador Google académico. Objetivo: Valorar los conceptos que se exponen en la literatura científica y proponer el más integrativo. Desarrollo: Se abordan fortalezas y limitaciones de 12 conceptos expuestos de acuerdo al enfoque de cada autor, dentro un contexto científico actualizado, además se valora cómo evoluciona el concepto desde el enfoque biologicista hasta el sociomédico, desde las primeras definiciones que no hacían referencia al impacto psicosocial de las deformidades o no eran inclusivas con toda la región facial, hasta las definiciones más integrativas a criterio de los autores y avalados por estudios de otros investigadores. Conclusiones: El concepto de deformidad facial ha evolucionado desde un paradigma biologicista a otro sociomédico. La extensión a toda la región facial, así como la percepción de los pacientes de sí mismos y de cómo la sociedad los asume e integra, debe ser parte del problema teórico a conceptualizar. Los autores proponen el concepto expuesto por Blanco y otros, por considerarlo el más integrativo; lo recomiendan para estudios de validación de contenido y su uso posterior en la práctica clínica.

ABSTRACT Introduction: The face is the anatomical support for the functioning of the senses and the cornerstone for social integration. The biological paradigm is maintained as the basis for the theoretical conceptualization of facial deformities, while the biopsychosocial approach to health is not strongly evidenced for facial deformities, a narrative review of the literature was carried out in the databases: SciELO , PubMed, Redalyc and Infomed and with the academic Google search engine. Objective: Assess the concepts that are exposed in the scientific literature and propose the most integrative. Development: Strengths and limitations of 12 exposed concepts are addressed according to the approach of each author, within an updated scientific context, as well as how the concept evolves from the biological to the sociomedical approach, from the first definitions that did not refer to the impact. psychosocial of the deformities or were not inclusive with the entire facial region, up to the most integrative definitions at the discretion of the authors and supported by studies by other researchers. Conclusions: The concept of facial deformity has evolved from a biological paradigm to a sociomedical one. The extension to the entire facial region, as well as the patients' perception of themselves and how society assumes and integrates them, must be part of the theoretical problem to be conceptualized. The authors propose the concept exposed by Blanco and others, considering it the most integrative; recommend it for content validation studies and subsequent use in clinical practice.

Alagille Syndrome: Features and Outcome among Filipino Children

@#We report 13 children fulfilling criteria of Alagille syndrome. All had chronic cholestasis secondary to paucity of intrahepatic bile ducts and triangular facies. Eight children had associated congenital heart disease (six pulmonic stenosis, one each tetralogy of Fallot and patent ductus arteriosus), seven with butterfly vertebrae and one with posterior embryotoxon. Seven of the 13 children are alive and jaundice-free but three with concomitant hypercholesterolemia; the six other children died of liver-related complications.

Phenotypic and genetic analysis of a pedigree with 4p16 microduplication and 8p23 microdeletion / 中华医学遗传学杂志

Objective@#To explore the nature and origin of chromosomal copy number variants (CNVs) in a pedigree affected with mental retardation.@*Methods@#Genomic CNVs of the proband were analyzed by next generation sequencing (NGS). Chromosomal karyotypes of the proband and his relatives were analyzed with high-resolution karyotyping and fluorescence in situ hybridization (FISH).@*Results@#Clinical phenotypes of the proband and other patients from the pedigree included mental retardation and mild dysmorphism. The results of NGS revealed that the proband carried a 16.24 Mb microduplication at 4p16.3-15.32 and a 2.2 Mb microdeletion at 8p23.3-23.2. Other patients of the pedigree harbored the same variants, while those without the phenotypes did not harbor the variants. The results of high-resolution karyotyping and FISH revealed that the mother of the proband carried a reciprocal translocation between 4p and 8p, and her karyotype was 46, XX, t(4; 8)(p16; p23). No karyotypic abnormality was detected in his father.@*Conclusion@#The abnormal phenotypes of this pedigree may be attributed to 4p microduplication in conjunct with 8p microdeletion derived from a maternal balanced translocation between 4p and 8p.