Constanza García‐Delgado

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population

Carlos De la Torre-González, Dina Villanueva‐García, Constanza García‐Delgado, Salvador Castillo-Castillo et autres

Hearing loss is the most frequent sensory disorder, with an incidence of 1:1500 live newborns. In more than 50% of patients, it is associated with a genetic cause, while in up to 30% of cases, it is related to syndromic entities. We …

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Displasia ectodérmica hipohidrótica ligada al cromosoma X de novo por variante recurrente en un paciente mexicano

MiguelAngel Noriega-Juárez, Constanza García‐Delgado, América Villaseñor-Domínguez, Carlos Mena‐Cedillos et autres

Background: Ectodermal dysplasias are a group of genodermatoses characterized by dystrophy of ectodermal derived structures. The most frequent presentation of the ectodermal dysplasias is the hypohidrotic type, which has an incidence of 7/100,000 newborns and has been described in all ethnic groups. …

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High penetrance of EDA pathogenic variants in Mexican female carriers with hypohidrotic ectodermal dysplasia

Nancy Monroy‐Jaramillo, Constanza García‐Delgado, MiguelAngel Noriega-Juárez, Alicia Cervantes et autres

X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by EDA pathogenic variants. Female carriers show several clinical manifestations in variable percentages. We studied 11 Mexican heterozygous females with an EDA variant. The most frequent symptoms were similar to previous reports; however, two females …

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Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

Magdalena Cerón‐Rodríguez, Edgar Ricardo Vázquez-Martínez, Constanza García‐Delgado, Alberto Ortega‐Vázquez et autres

INTRODUCTION AND OBJECTIVES: Niemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4-0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1. We analyzed the phenotype and genotype of …

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Out-of-pocket expenditures and care time for children with Down Syndrome: A single-hospital study in Mexico City

Silvia Martínez‐Valverde, Guillermo Salinas‐Escudero, Constanza García‐Delgado, Juan Garduño‐Espinosa et autres

AIM: To examine the burden of out-of-pocket household expenditures and time spent on care by families responsible for children with Down Syndrome (DS). METHODS: A cross-sectional analysis was performed after surveying families of children with DS. The children all received medical care …

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A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome

Alejandra del Pilar Reyes-de la Rosa, Gustavo Varela‐Fascinetto, Constanza García‐Delgado, Edgar Ricardo Vázquez-Martínez et autres

Alagille syndrome (MIM 118450) is an autosomal dominant disorder characterized by paucity of intrahepatic bile ducts, chronic cholestasis, pulmonary stenosis, butterfly-like vertebrae, posterior embryotoxon, and dysmorphic facial features. Most cases are caused by JAG1 gene mutations. We report the case of a …

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Síndrome de Pallister-Killian en una paciente mestiza mexicana.Reporte de caso

Paola Mendelsberg-Fishbein, Constanza García‐Delgado, Linda B. Muñoz-Martínez, Maura Robledo-Cayetano et autres

Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping …

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Nance–Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature

Laura Gómez-Laguna, Alejandro Martínez‐Herrera, Alejandra del Pilar Reyes-de la Rosa, Constanza García‐Delgado et autres

The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% …

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Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities ( CDAGS syndrome): first report in a Mexican patient and review of the literature

Rodrigo Pastrana‐Ayala, Gretty L. Peña‐Castro, Adriana Valencia, Carlos Mena‐Cedillos et autres

INTRODUCTION: Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal recessive entity with only 10 cases reported; no associated gene has been identified so far. CASE REPORT: The proband …

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Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia

Nancy Monroy‐Jaramillo, Constanza García‐Delgado, América Villaseñor-Domínguez, Carlos Mena‐Cedillos et autres

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Macroglosia congénita: características clínicas y estrategias de tratamiento en la edad pediátrica

Paulina María Nuñez-Martínez, Constanza García‐Delgado, Verónica Fabiola Morán-Barroso, Luís Jasso-Gutiérrez

Congenital macroglossia is a condition that consists in an enlarged tongue that in resting position protrudes beyond the alveolar ridge. It has been classified in two categories: true macroglossia, which occurs in congenital or acquired forms, and relative macroglossia. As this alteration …

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Congenital macroglossia: clinical features and therapeutic strategies in pediatric patients

Paulina María Nuñez-Martínez, Constanza García‐Delgado, Verónica Fabiola Morán-Barroso, Luís Jasso-Gutiérrez

Congenital macroglossia is a condition that consists in an enlarged tongue protruding beyond the alveolar ridge in a resting position. It has been classified into two categories: true macroglossia, which occurs in congenital or acquired forms, and relative macroglossia. As this alteration …

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