No abstract

Se presenta el caso de una paciente embarazada, portadora de Síndrome de Morquio (Mucopolisacaridosis tipo IV), que evoluciona con polihidroamnios y disnea. Se comenta el manejo y resolución del caso.

ResumenLa are: c umbilical urrca [AUU) es una malformocicn cenfinela que debe orien'ar a la busqueca mas exhaustive de mclfcrmaciones asociadas que pueden no ser siempre evidentes, ya sea que estas se presenten en forma de sindrones a bien co r un patron desconocido. Este estudio incluye a las casos registrac'os de AUU en la Lnidad de Neonatolog'c del Hbspiral Clinico de la IHvers'dad de Chi e desde enero de 1978 hasfa abril de 1998. Observamos, como se ha reportaco en la literature, que la AUU aislada o asociada a malformaciones menores t'ene buen pronostico, en contraoosicion a lo que ocurre cuando se acompana de unc o mas malfcrmaciones mayores. Se encontro a la AUU como pcrte de un sindrome en un 36,4% de los casos y se detectaron caisas crornosomicas en 10,9% de ellos. Es importante intentar realizcr un c'iagn6sl"co preciso, de manera de estimar el riesgo de recurrencia que puedan tener los pad'es en futures emba r azos.(Palabras clave: arteria umbilical unica.. rnal'ormaciones co^gen'tas.] Single umbilical artery and associated malformationsSingle umbi'ical artery |SUA) is a sentinel malforna ; ion wh'ch should guide lo the more exhaustive sea r ch of congenital associated anomalies which are not always evicent, w~ethe r as part of well-identified syndromes or as part of unrecognized malfo'mation patterns In 'his study., which includes the cases of SJA registered in the Neonatology Unit of the University of Chile Cirical Hospital, between January of 1978 and aprJ of 1998, we found that when SUA is accompanied with one or more major malformations there is a poor prognos's, confirming previous reports. We found SUA os part of a syndrome in 36,4% of the cases and a chromosomal abnormality in 10,9% of them. :( is important to intend to per f orm an accurate diagnosis, because of the impl'cct'ons for the parents in relation to recurrence risk in a "ext pregnancy.(Key words: single jnbil'cal arte'y, congenital malformations.;Austin-Ward E. y cols. Revlsta Chilena de PediatrfaSeptiembre-Octubre 1998

No abstract

Clinical and cytogenetic aspects in 257 cases of Down's syndromeAmong 257 patients with clinical diagnosis of Down's syndrome, 56.4% of male gender, in whom cytogenetic studies were performed, 14 (5.4%} had normal karyotypes and 243 (94.6%) had 21 trisomy. Of these last, 225 (92.6%) had free 21 trisomy, 10 (4.1%) showed mosaics, 8 (3.3%) had translations. Average maternal age of this sample was significantly higher than that of patients attending the same maternity wards (32.14 vs. 24.85 years) and 41% of Down syndrome's patients came from mothers aged 36 years or more, even though only 9.7% of this country's deliveries proceed from women of that age group. As to seasonal ocurrence, the proportions of births which happened in summer almost doubled that of winter (33.1 % vs. 16.9%). The frequency of characteristic clinical signs of Down's syndrome was somewhat different than that described for patients from some other countries, for instance: epicanthus, short nsck and widening of the space between 1st. and 2nd. toe were m'ore frequent, while Brushfield's spots, depressed occiput, dental anomalies, heart malformations and fisured tonge seemed less frequent. The importance of cytogenetic studies for diagnosis and genetic counseling is stressed. (