Maria del C. Gonzalez, MD

Maria del C. Gonzalez, MD

MEDICAL GENETIC SECTION

Maria del C. Gonzalez Rios, MD
Professor and Director
Medical Genetics Section
Department of Pediatrics
School of Medicine
University of Puerto Rico

Tel: (787) – 474-0333 Ext-7449

maria.gonzalez39@upr.edu

 

Overview

The Medical Genetics Section is at the University Pediatric Hospital Department of Pediatrics located at Puerto Rico Medical Center.   The Section provides both outpatient and inpatient consultation, evaluation management and follow up services for neonates, infants, children, adolescents and families with genetics disorders.  It is the largest pediatric genetics service in the Island.

In patient Services

The section faculty is committed to provide consultation services to the Pediatric University Hospital 24 hours a day/ 7 days a week.  Transfers for evaluation are accepted through the Department of Pediatrics from the complete island of Puerto Rico, as well as the Virgin Islands.  Service provide comprehensive, multidisciplinary approach to the care of patients with metabolic and genetic disorders.

Outpatient Services

The outpatient Service is offered mainly for children with genetic disorders at the University Pediatric Hospital, 4th floor south, where clinics are held  at ASEM, second floor , PRMC, clinics for adults with Inborn errors are provided twice per month.

 

Areas of Expertise

  • Angelman Syndrome
  • Antenatal/fetal genetics
  • Autism associated to genetics disorders
  • Genetic syndromes
  • Brain malformations
  • Chromosome abnormalities
  • Connective tissue disorders
  • Fatty acid oxidation defects
  • Fragile X syndrome
  • Galactosemia
  • Homosytinuria,
  • MCAD
  • Methylmalonic academia
  • MSUD
  • Neurofibromatosis
  • Organic academia
  • Phenylketonuria
  • Prader Willi Syndrome
  • Propionic Acidemia
  • Sensorineural hearing loss
  • Skeletal dysplasia
  • Smith Lemli Opitz syndrome
  • Velo cardio facial syndrome
  • Among others

Research

The division is committed to participating in research regarding Genetic and Metabolic conditions and diseases especially on those issues regarding Hispanics and Puerto Ricans in particular.

Faculty

Maria del C. Gonzalez Rios, MD
Professor and Director
Medical Genetics Section
Department of Pediatrics
School of Medicine
University of Puerto Rico
Tel: (787) – 474-0333 Ext-7449
maria.gonzalez39@upr.edu

 

Julia T. Malavet Pantoja, MD
Pediatrician and Assistant Professor
Department of Pediatrics
School of Medicine
University of Puerto Rico
Tel: (787) -474-0333 Ext-7449
julia.malavet@upr.edu

Maria del C. Gonzalez, MD

Maria del C. Gonzalez, MD

MEDICAL GENETIC SECTION

Maria del C. Gonzalez Rios, MD
Professor and Director
Medical Genetics Section
Department of Pediatrics
School of Medicine
University of Puerto Rico

Tel: (787) – 474-0333 Ext-7449

maria.gonzalez39@upr.edu

 

Research

The section is committed to participate in research. At this moment we are involved in the DIRA research project run with the Newborn Screening Program and in the expansion of the Newborn Screening Program, so as to identify earlier genetic diseases with potential treatment.

Dr. Maria del C. Gonzalez is Professor of Pediatrics at the Department of Pediatrics of the University of Puerto Rico School Of Medicine.  Dr. Gonzalez is in charge of the Outpatient Genetic clinics held at the fourth floor of the University Children’s Hospital three times per week. Also evaluates all in-house genetic consults generated in the different services at our institution. She is actively involved in teaching and provides courses in human genetics at the Medical Science Campus to Medical Students, Residents in Pediatrics, Pediatric Psychiatry fellows, and Pediatric Neurology fellows. Her work includes the creation and follow up of a clinic for adult patients with Phenylketonuria and other Inborn Errors of Metabolism and to collaborate with the PKU Association.

Dr. Julia Malavet is Assistant Professor of Pediatrics at the Department of Pediatrics of the University of Puerto Rico School of Medicine. She has participated actively in maintaining the PALS courses and is Instructor for these courses. Participates actively in the Genetic Clinics and collaborates very closely with Dr. Gonzalez in the evaluation of patients seen at clinic and at the in-house consults. She is involved in the Second year Medical Students initial clinical experience and participates in their evaluation.

 

Faculty

Maria del C. Gonzalez Rios, MD
Professor and Director
Medical Genetics Section
Department of Pediatrics
School of Medicine
University of Puerto Rico
Tel: (787) – 474-0333 Ext-7449
maria.gonzalez39@upr.edu

 

Julia T. Malavet Pantoja, MD
Pediatrician and Assistant Professor
Department of Pediatrics
School of Medicine
University of Puerto Rico
Tel: (787) -474-0333 Ext-7449
julia.malavet@upr.edu