[A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly].


:The FATCO syndrome, (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) are bone malformations with main alteration in lower limbs. It is a rare entity and there are few cases reported in international literature, and so far there are not published cases in Colombia. Here we present a case of a male newborn with prenatal and postnatal signs consistent with FATCO syndrome without other organs malformations, and there is a brief discussion about this syndrome and other different malformations associated with it. :El síndrome FATCO, por las siglas en inglés de aplasia fibular (Fibular Aplasia), campomelia de tibia (Tibial Campomelia) y oligosindactilia (Oligosyndactyly), es un conjunto de malformaciones óseas, en las que la alteración se centra en los huesos de la pierna. Es una entidad rara y hay pocos casos descritos en la Literatura internacional, y, hasta ahora, no se ha descrito ningún caso en Colombia. Presentamos aquí el caso de un recién nacido de sexo masculino con signos clínicos de manera prenatal y posnatal consistentes con síndrome FATCO sin otras malformaciones asociadas. Exponemos también una breve discusión sobre las diferentes malformaciones óseas y otros casos de FATCO en el mundo.


Arch Argent Pediatr


D'Amato Gutiérrez M,Palacio Díaz FA




Has Abstract


2016-06-01 00:00:00












  • MEFV gene mutations and clinical course in pediatric patients with Henoch-Schönlein purpura.

    abstract:OBJECTIVE:To determine the frequency of the MEFV gene mutations in pediatric patients diagnosed with HSP and to assess the effect of the MEFV gene mutations on their prognosis. Material and Methods. Ccross-sectional study; pediatric patients between 2-11 years diagnosed with HSP were included. These cases were investig...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Can E,Kılınç Yaprak Z,Hamilçıkan Ş,Erol M,Bostan Gayret Y Özgül Yiğit Ö

    更新日期:2018-06-01 00:00:00

  • [Access to a III level neonatal intensive care unit in Argentina].

    abstract:INTRODUCTION:In Argentina information does not exist about how many newborns (NB) who need to be hospitalized in a third level neonatal intensive care unit (NICU) actually accede, not even about the evolution of those who cannot accede. OBJECTIVE:To analize the characteristics of NB that required to be hospitalized in...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Rabasa C,Bossi L,Santos P,Rodríguez S,Fariña D

    更新日期:2010-08-01 00:00:00

  • Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.

    abstract:BACKGROUND:Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Katipoğlu N,Karapinar TH,Demir K,Aydin Köker S,Nalbantoğlu Ö,Ay Y,Korkmaz HA,Oymak Y,Yıldız M,Tunç S,Hazan F,Vergin C,Ozkan B

    更新日期:2017-06-01 00:00:00

  • Bedsharing at home, breastfeeding and sudden infant death.Recommendations for health professionals

    abstract::The Sudden and Unexpected Infant Death Task Force together with the Subcommittee on Breastfeeding of the Sociedad Argentina de Pediatría have issued updated recommendations on bedsharing with the parents, a practice which remains controversial. Sleeping with the mother maximizes breastfeeding, which is protective agai...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章,实务指引


    authors: Subcomisión de Lactancia Materna.,Grupo de Trabajo de Muerte Súbita e Inesperada del Lactante.,Jenik A,Conti R

    更新日期:2017-10-01 00:00:00

  • [Meconium periorchitis: A case report].

    abstract::Meconium periorchitis is uncommon. In the unborn child the peritoneum vaginal canal is open and, secondary to intestinal perforation due to any cause (intestinal atresia, volvulus, and others), meconium peritonitis occurs. The intestinal content reaches the scrotal vaginal cavity. Meconium peritonitis can heal spontan...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Acosta P,Gambina F,Perelli L,Díaz Pumará E,Martínez JL,Etchepareborda MN,Zuccardi L

    更新日期:2015-12-01 00:00:00

  • [Diagnostic and treatment approach of chronic cough in childhood].

    abstract::Chronic cough is a symptom of various respiratory and non-respiratory conditions with negative impact on quality of life of children and their families. The pediatricians should focus their efforts in search for etiological diagnosis. A careful medical history and physical examination are the mainstays of diagnosis an...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章,评审


    authors: Saranz RJ,Lozano A,Lozano NA,Castro Rodríguez JA

    更新日期:2013-04-01 00:00:00

  • [Phelan McDermid Syndrome: five patients description and report on the first case described in conjoined twins].

    abstract::Phelan McDermid Syndrome is caused by the loss of genetic material in a chromosome from pair 22, at the band q13.3. We describe five patients with deletion 22q13.3 in order to establish a genotype-phenotype association, and report the first case described in conjoined twins. We analyzed the perinatal history, psychomo...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Canonero I,Montes C,Sturich A,Boterón M,Asinari M,Cuestas E,Rossi N

    更新日期:2012-05-01 00:00:00

  • The obese child in the Intensive Care Unit. Update.

    abstract::Given that childhood obesity is an epidemic, the frequency of critically-ill patients who are overweight or obese seen at intensive care units has increased rapidly. Adipose tissue is an endocrine organ that secretes a number of protein hormones, including leptin, which stands out because it regulates adipose tissue m...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章,评审


    authors: Donoso Fuentes A,Córdova L P,Hevia J P,Arriagada S D

    更新日期:2016-06-01 00:00:00

  • [Primary pyomyositis due to community acquired methicillin resistant Staphylococcus aureus].

    abstract::Primary pyomyositis is an acute or subacute bacterial infection of skeletal muscle characterized by the formation of intramuscular localized abscess without a previous adjoining or remote infection. Although it is not frequent in our population, it is increasing because of community-acquired methicillin-resistant Stap...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Jozefkowicz M,Jorrat P,Méndez J

    更新日期:2008-12-01 00:00:00

  • [CHARGE syndrome].

    abstract::The characteristic phenotype of CHARGE syndrome includes: coloboma, congenital heart defect, choanal atresia, retarded growth and development, genital abnormalities, ear anomalies with or without hearing loss, which give the name (an acronym) to this condition. The molecular cause in 60% of the cases are mutations in ...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Lobete Prieto CJ,Llano Rivas I,Fernández Toral J,Madero Barrajón P

    更新日期:2010-02-01 00:00:00

  • [Practical approach to management of gynecomastia: six questions to be answered by the paediatrician regarding a patient with gynecomastia].

    abstract::Pubertal gynecomastia is a common concern in the consultation of the adolescent. Usually, it is accompanied by an emotional component that can lead to changes in everyday attitudes of youth. The responsability of the pediatrician is to rule out other etiologies, to avoid unnecessary additional studies, to limit active...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Comité Nacional de Endocrinología.

    更新日期:2011-08-01 00:00:00

  • [National survey of pediatric residences in Argentina].

    abstract:Introduction:Currently, there is no complete registry of pediatric residences in Argentina. Objectives:To identify all pediatric residences in Argentina. To establish a situation diagnosis and a unified registry. Methods:Descriptive, observational crosssectional study. A preliminary list of residences was established...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Dartiguelongue JB,Guiñazú G,Piñeiro Tripodi L,Arpí L

    更新日期:2020-10-01 00:00:00

  • [Surgical treatment of macroglossia in Beckwith-Wiedemann syndrome: case report].

    abstract::Beckwith-Wiedemann syndrome is a rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly, cardiac abnormalities, among others. Macroglossia occurs in 90% of cases, causing a problem in chewin...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Roa Rojas P,Arango Fernández H,Rebolledo Cobos M,Harris Ricardo J

    更新日期:2018-04-01 00:00:00

  • The effect of strength training based on process approach intervention on balance of children with developmental coordination disorder.

    abstract:INTRODUCTION:Balance is one of the main problems of children with developmental coordination disorder (DCD). According to process-oriented approach, besides strength training, neuromuscular adaptations can improve balance. OBJETIVE:To evaluate the effects of strength training on improving static and dynamic balance in...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章,随机对照试验


    authors: Kordi H,Sohrabi M,Saberi Kakhki A,Attarzadeh Hossini SR

    更新日期:2016-12-01 00:00:00

  • Osteomyelitis in burn children: Ten years of experience.

    abstract:INTRODUCTION:Osteomyelitis is uncommon among burn patients. OBJECTIVE:To describe the clinical, microbiological, and evolutionary characteristics of burn children with osteomyelitis hospitalized in a tertiary care facility. METHODS:Retrospective and descriptive study conducted between January 2007 and January 2017. ...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Rosanova MT,Voto C,Carnovale S,Tramonti N,Lema J,Pinheiro JL,Isasmendi A,Alvarez V,Villasboas RM,Laborde S,Basílico H

    更新日期:2018-02-01 00:00:00

  • Multidimensional approach to iron deficiency anemia in infants younger than two years old in Northeast Argentina. 2004-2005.

    abstract:INTRODUCTION:The prevalence of iron deficiency anemia (IDA) is high among infants younger than two years old, especially in disadvantaged populations. OBJECTIVE:To study certain social and biological determinants associated with IDA in children aged 12 to 23.9 months old in Northeast Argentina in the 2004-2005 period....

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Falivene MA,Fattore GL

    更新日期:2016-02-01 00:00:00

  • Successful administration of measles-rubella-mumps vaccine by graded challenge in a case with anaphylaxis after prior vaccination.

    abstract::Egg allergy is one of the most common food allergies during childhood along with cow's milk allergy. The measles-mumpsrubella (MMR) vaccine is included in the pediatric immunization schedule and contains egg protein. The currently accepted opinion is that the MMR vaccination should be done in a single dose under medic...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Tuncel T,Sancakli O,Ozdogru E

    更新日期:2017-04-01 00:00:00

  • [Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate].

    abstract::Nemaline myopathy (NM) is a heterogeneous disorder defined by the presence of rod-shaped structures known as nemaline bodies or rods. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy. There is no curative treatment for nemaline myopathy. Therapeutic strategies ...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Sahin S,Oncel MY,Bidev D,Okur N,Talim B,Oguz SS

    更新日期:2019-08-01 00:00:00

  • [Mucopolysaccharidosis I, Hurler syndrome: a case report].

    abstract::Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme a-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall i...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Amorín M,Carlin A,Prötzel A

    更新日期:2012-10-01 00:00:00

  • [Posterior reversible encephalopathy in a girl with systemic lupus erythematosus: Report of a case].

    abstract::Posterior reversible encephalopathy is a rare disease in children. Clinical manifestations include headache, seizures, visual disturbances and altered consciousness associated with typical magnetic resonance images of the nervous system. The syndrome usually manifests in patients with eclampsia, solid organ transplant...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Marín GR

    更新日期:2015-10-01 00:00:00

  • Trichorhinophalangeal syndrome type II presenting with short stature in a child.

    abstract::Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, tricho...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Hazan F,Korkmaz HA,Yararbaş K,Wuyts W,Tükün A,Collaborator.

    更新日期:2016-12-01 00:00:00

  • [Cow's milk proteín allergy: proposed guidelines for the management of children with cow's milk protein allergy].

    abstract::Cow's milk allergy is a growing concern in the practice of pediatrics. The impression of an increasing incidence, similar to what has been reported in other latitudes, has determined the need for guidelines to help in the diagnosis and treatment of this disease. A group of pediatric specialists met to discuss the "sta...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Marina O,Fernández A,Follett FR,Marchisone S,Saieg G,Busoni VB,Tabacco O,Toca C

    更新日期:2009-10-01 00:00:00

  • Detection of illicit drugs in urine in the Division of Neonatology, Hospital Molas in La Pampa.

    abstract::There are few studies on the use of illicit drugs during pregnancy with a variable prevalence depending on the year, maternal age, region and diagnostic methods. Mothers' and newborn infants' urine samples were tested for illegal drugs in cases where the mother reported consumption, lack of antenatal care and neonatal...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Villarreal M,Ré S

    更新日期:2013-06-01 00:00:00

  • [Acute abdomen at onset of incomplete and atypical Kawasaki disease: case report].

    abstract::Kawasaki disease is one of the most common systemic vasculitis in children and the most common cause of acquired heart disease in developed countries. Diagnosis relies on clinical findings and there is no specific test. Diagnosis and treatment decisions are very difficult in incomplete or atypical cases and questions ...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: García Munitis P,Ves Losada J,Montali C

    更新日期:2015-04-01 00:00:00

  • [Combined glomerulopathies: two pediatric cases].

    abstract::Combined glomerulopathy is infrequent in pediatric patients. Its presence should be suspected in those patients with glomerulophaties with atypical course. The influence on the long-term renal impairment remains uncertain. Here we report two children with histological findings of combined glomerulopathy. :La combinac...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Di Pinto D,Balbarrey Z,Adragna M

    更新日期:2018-10-01 00:00:00

  • [Langerhans cell histiocytosis presenting as isolated adenitis in an infant: case report].

    abstract::Langerhans cell histiocytosis in infants is a rare condition, and presentation as an isolated cervical adenitis is exceptional at this age. We describe the case of a 3-month-old female infant presenting with a neck mass in the right mandibular angle with poor response to antibiotic treatment. Fine needle aspiration wa...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Soriano-Ramos M,Salcedo Lobato E,Baro Fernández M,Blázquez-Gamero D

    更新日期:2016-08-01 00:00:00

  • [Impact of folic acid fortification on women's nutritional status and on the prevalence of neural tube defects].

    abstract:INTRODUCTION:In 2003 iron and folic acid fortification of wheat flour became mandatory in Argentina. Folate nutritional status was assessed in a national probabilistic sample of women 10-49 years old and pregnant women. Changes in the prevalence of neural tube defects (NTDs) were evaluated before and after fortificatio...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Calvo EB,Biglieri A

    更新日期:2008-12-01 00:00:00

  • Assessment of lipid profile and some risk factors of atherosclerosis in children whose parents had early onset coronary artery disease.

    abstract:BACKGROUND/AIM:The objective of our study was to analyze the lipid profile and some risk factors of atherosclerosis such as oxidized-low density lipoprotein (ox-LDL), small dense LDL (sd LDL) in the offspring of patients with premature coronary heart disease (CHD). POPULATION AND METHODS:Children whose parents had ear...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Bornaun H,Öner N,Nişli K,Öztarhan K,Yavuz T,Türkoğlu Ü,Dindar A,Eker Ömeroglu R

    更新日期:2017-02-01 00:00:00

  • Survival and morbidity of very low birth weight infant in a South American neonatal network.

    abstract:OBJECTIVE:To analyze survival and relevant morbidity by gestational age (GA) in very low birth weight (VLBW) infants (<1500 g) and, based on these data, develop a fact sheet to provide information to perinatal healthcare providers and very low birth weight preterm infants' parents. STUDY DESIGN:Data were prospectively...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章,多中心研究


    authors: Fernández R,D'Apremont I,Domínguez A,Tapia JL,Red Neonatal Neocosur.

    更新日期:2014-10-01 00:00:00

  • [Paroxysmal upgaze deviation syndrome].

    abstract::In 1988, Ouvrier and Billson described four children with a condition they termed "benign paroxysmal tonic upgaze syndrome". The clinical picture is characterized by the appearance, in the first months of life, of episodes of paroxysmal upgaze deviation of varying duration, and without alteration of consciousness. Fix...

    journal_title:Archivos argentinos de pediatria

    pub_type: 杂志文章


    authors: Sousa L,Gonorazky S

    更新日期:2010-10-01 00:00:00