Harry Pachajoa

Defectos Congénitos Mayores en un Hospital de Tercer Nivel en Cali - Colombia. 2004 – 2008

Objetivos Determinar la prevalencia de los defectos congenitos diagnosticados al nacimiento y describir los factores sociodemograficos y del recien nacido asociados a la ocurrencia de estas patologias en un hospital de tercer nivel de la ciudad de Cali en Colombia. Metodologia Se analizo la informacion del sistema de vigilancia del Hospital Universitario del Valle entre marzo de 2004 y octubre de 2008. Para determinar la ocurrencia de defectos congenitos se siguio la metodologia propuesta por el ECLAMC. Se realizaron tablas y graficos para describir las caracteristicas de los recien nacidos y sus padres. Resultados Durante el periodo de estudio, un total de 4 anos y 7 meses entre 2004 y 2008, se atendieron 32 995 nacimientos, de los cuales 735 presentaron al menos un defecto congenito, para una prevalencia de 2,22 por 10 000 nacimientos. Por grupos especificos de defectos congenitos se registraron las prevalencias mas altas (casos x 10 000 nacimientos) para: polidactilia (22,1), pie equinovaro (17,6), hidrocefalia (16,4), defectos del tubo neural (16,7), defectos por reduccion de extremidades (8,2), labio y/o paladar hendido (10,9), cardiopatias (14,6), hidronefrosis (11,5), gastrosquisis (7,3), ciclopia (2,4) y sirenomelia (1,2). Discusion Las prevalencias de defectos congenitos relacionados con factores ambientales como hidrocefalia, defectos por reduccion de extremidades, pie equino varo, hidronefrosis, gastrosquisis, ciclopia y sirenomelia presentaron prevalencias mas altas en comparacion con lo reportado en la literatura. Se presentan algunas hipotesis que podrian explicar el aumento registrado.

Possible case of sirenomelia in the Tumaco-Tolita pottery pre-Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali-Colombia.

follow up of the ECLAMC (Latin-American Collaborative Study of Congenital Malformations), an epidemic focus of sirenomelia, where during a 55-day period between September 12, 2004, and February 2, 20005, 1,064 children were born and four cases presented this rare disease, whichwas considered unusual and suggesting the presence of a cluster [Castilla et al., 2008]. We present a pottery sample from the Tumaco-Tolita culture close to 2,000 years old with a possible sirenomelia that presents phenotypical features like fused lower limbs, probably constituting the oldest evidence of this disease in the pre-Hispanic LatinAmerican and past world. The Tumaco-Tolita culture inhabited the geo-historic region of the Pacific Colombo-Ecuadorian coast during the years 300 BCE to 600 CE (Fig. 1). This culture was characterized for depicting with impressive realism the different pathologies affecting their population. In their pottery work, they show evidence of genetic illnesses like Down syndrome and achondroplasia, congenital malformations, and health states like maternity, aging processes, and death [Bernal and Brice~ no, 2006; Pachajoa et al., 2007].

Mosaic trisomy 13 and a sacral appendage

Mosaic trisomy 13 occurs when there is a percentage of trisomic cells for an entire chromosome 13, while the remaining percentage of cells is euploid. The prevalence of this syndrome ranges from 1 in 10 000 to 1 in 20 000 births. Complete, partial or mosaic forms of this disorder can occur. The phenotype of mosaic trisomy 13 patients varies widely. Patients with mosaic trisomy 13 usually have a longer survival and a less severe phenotype compared to patients with complete trisomy 13. Genetic counselling is difficult due to the wide variation among the clinical manifestations of these patients. There have been 49 cases of mosaic trisomy 13 reported in the literature. We report the case of a patient with mosaic trisomy 13, a sacral appendage and a cleft lip and palate.

Primer caso de síndrome de Moebius-Poland en niño expuesto prenatalmente a misoprostol

l síndrome de Moebius (OMIM 157900) se caracteriza por arálisis facial con alteración de la abducción ocular. El nerio facial (VII nervio craneal) y nervio abducens (VI nervio raneal) son más frecuentemente involucrados, pero otros ervios craneales pueden estar involucrados también. El enotipo es variable y puede incluir defectos congénitos oroaciales y de las extremidades1. La secuencia de Poland (OMIM 173800) se caracteriza por a presencia de braquisindactilia unilateral y aplasia ipsoateral de la porción esternocostal del músculo pectoral ayor. Algunas veces se denomina síndrome de Poland por er inicialmente descrito por Poland2. La combinación del síndrome de Moebius y Poland e presenta raramente y se ha estimado una prevalenia de 1 en 500.000; en la literatura revisada no se ncontró esta asociación en expuestos prenatalmente a isoprostol3. Se presenta un reporte de síndrome de Moebius y Poland n un neonato expuesto prenatalmente a misoprostol. Paciente hijo de madre de 18 años, quien consultó por ismorfismo facial, encontrándose al examen físico parálisis acial bilateral, cara redondeada, fisuras palpebrales delgaas, labios en arco de cupido, paladar ojival, micrognatia, ipoplasia de pectoral mayor con ausencia de tetilla (ateia), además se encuentra sindactilia proximal del segundo tercer dedo, y pie equinovaro bilateral (figs. 1 y 2). Como ntecedente de importancia se encuentra que la madre utiizo por vía oral y vaginal a las 5 semanas de gestación 400 g e misoprostol con fines abortivos, presentando sangrado scaso. El misoprostol es un análogo sintético de la prostalandina E1 aprobado según las entidades reguladoras de edicamentos de muchos países para la prevención y el ratamiento de úlceras gástricas asociadas con el uso de ntiinflamatorios no esteroideos, por su efecto antisecretor e ácidos gástricos. La exposición prenatal a misoprostol e ha asociado a la ocurrencia de defectos por disrupción ascular, principalmente la secuencia de Moebius y defectos 4,5 el desarrollo de los vasos sanguíneos cambiando la anatomía y/o la estructura6,7. Las anormalidades vasculares de la arteria subclavia derecha observada en síndrome de Poland pueden relacionarse con una disrupción vascular causada por misoprostol durante un período crítico5,8.

Holoprosencephaly with premaxillary agenesis in a prehistoric skull

We present a 1500-year-old skull of a 5-year-old child (ossification and tooth eruption), who presented a premaxillary agenesis and ocular hypotelorism suggesting the diagnosis of semilobar HPE. The presentation of HPE has been extensively studied by Cohen (2009). He describes cyclopia as the main manifestation. 4 Although the presence of HPE and premaxillary agenesis has been reported, this case corresponds to the Lima culture, a pre-Inca culture that developed in the central coast of Peru (between A.D. 100 to A.D. 650). In our case it was not possible to determine the aetiology, considering that it was an indigenous community that inhabited Peru 1500 years ago. Different representations of human malformations in community-made ceramics South American Pacific coast with ornaments and costumes of the elite, suggest that people with congenital malformations had some preferential management in these communities. 5

Microsomía hemifacial (espectro oculoauriculovertebral) en la cerámica de la cultura prehispánica tumaco-tolita (300 a.C.-600 d.C.)

La microsomia hemifacial es un defecto congenito que invo-lucra los derivados del primero y segundo arco branquial. El espectro clinico fue mas tarde extendido e incluye una varie-dad de anomalias oculares, auriculares y vertebrales y fue renombrado apropiadamente como espectro oculoauricu-lovertebral (OAVS) por su asociacion con otras anomalias craneofaciales, cardiacas, vertebrales y del sistema nervioso central

Siamese twins with craniofacial duplication and bilateral cleft lip/palate in a ceramic representation of the Chimú culture (Peru): a comparative analysis with a current case.

Craniofacial duplication or diprosopus is a very rare malformation that is present in approximately 0.4% of conjoined twins. Here is presented a case of craniofacial duplication in association with bilateral cleft lip/palate in both heads found in a ceramic representation from the early Chimú culture from Peru. A comparative analysis is made with a current case of a 28-week-old fetus with similar characteristics. After reviewing the medical literature on conjoined twins, very few reports of facial cleft in both twins were found, with no reports at all of bilateral cleft lip/palate. This ceramic crock is considered one of the first representations suggestive of craniofacial duplication, and probably the first reporting it in association with facial cleft.

A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report

IntroductionMicrocephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100cm, a post-pubertal head circumference of 40cm or less, mild mental retardation, an outgoing personality and bone dysplasia.Case presentationWe report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara. Analysis of the PCNT gene by sequencing showed the presence of a nucleotide change in exon 10, c. 1468C>T, evidencing a new mutation not reported in the literature for microcephalic osteodysplastic primordial dwarfism.ConclusionThe new mutation identified in this case could be associated with the severity of the phenotypic expression of the disease, resulting in the extreme short stature of the patient. Further studies are required to reach an explanation that can justify such findings, and it is vital to emphasize the importance of detection and follow-up by the epidemiological surveillance groups in birth defects and rare diseases.

Síndrome de Crouzon en poblaciones prehispánicas de Suramérica

El sindrome de Crouzon es una enfermedad caracterizada por craneosinostosis que causa alteraciones secundarias de los huesos faciales y de la estructura facial. Las caracteristicas comunes incluyen hipertelorismo, exoftalmos y estrabismo externo, la nariz de «pico de loro», labio superior corto, hipoplasia maxilar, un prognatismo mandibular relativo, cierre prematuro de las suturas craneales, hipoplasia del tercio medio facial, deformidades orbitales, y otras anomalias ocasionales asociadas1. Esta patologia es causada por mutaciones en el gen FGFR2, asignado a locus cromosomico 10q25-10q26 con una prevalencia de aproximadamente 1 por cada 25.000 recien nacidos vivos2. El sindrome de Crouzon es heredado como un rasgo autosomico dominante, con penetrancia completa y expresividad variable, pero el 3060% de los casos son esporadicos y representan mutaciones nuevas2. En 1912 un cirujano frances llamado Crouzon describio en una edicion de de Bulletins et Memoires Societe Medicale des Hopitaux de Paris una condicion craneofacial hereditaria que actualmente recibe su nombre. El caso inicial consistio en una madre y su hijo, ambos con caracteristicas clinicas de sindrome de Crouzon3. Este sindrome parece haberse presentado entre las poblaciones prehispanicas que ocuparon la costa pacifica de Colombia, Ecuador y Peru, y que fueron las creadoras de la cultura jerarquico-cacical Tumaco-La Tolita (300 a.C.-600 d.C.)4 y la sociedad estatal temprana Moche (200-850 d.C.)5. Estudios iconograficos y medicos recientes han revelado la

Analysis of the spatial and temporal distribution of birth defects between 2004-2008 at a third-level hospital in Cali, Colombia

Objective: To describe the spatial and temporal distribution of major birth defects and to identify clusters at spatial, temporal and space-temporal levels. Methods: A descriptive study was developed about the space and time distribution of defects registered in Cali between March 2004 and October 2008 using principles of spatial statistics, namely the spatial data exploratory analysis. Results: Higher case density and prevalence was observed among neighborhoods of eastern Cali. Three districts («communes») of the 21 in the city showed a larger probability (50 to 100% larger) of major birth defects. Significant clusters (p<0.05) were proven in spatial, temporal and space-temporal analysis. Conclusions: Birth defects were confirmed clustered in several communes at the poorest areas of the city. Occurrence of defects in this area may be associated, at least in part, to social and environmental inequities.