El saco vitelino y su contribución al desarrollo del saco amniótico antes de las 6 semanas de gestación: a propósito de un caso de aborto retenido / The yolk sac and its contribution to the development of the amniotic sac before the sixth week of pregnancy: a case of missed abortion

La expansión del saco amniótico entre las semanas 5 y 14 de gestación se correlaciona con los cambios de la superficie embrionaria. En este trabajo describimos un embarazo de 6 semanas en el que las imágenes ecográficas demostraron los sacos amniótico y vitelino sin polo embrionario. Se especula sobre el mecanismo por el que puede acumularse líquido amniótico en ausencia de embrión (AU)

[Dysmorphic features which imply neurological alterations. Guidelines for action]. / Rasgos dismórficos que implican alteración neurológica. Pautas de actuación.

INTRODUCTION: In a patient with dysmorphic features correct diagnosis is essential to establish the prognosis, including therapeutic possibilities, prevention of complications, expectations of psychomotor development and genetic and family planning counselling. For this, craniofacial anomalies are essential in the diagnosis of genetic syndromes. OBJECTIVE: The aim of this study is to describe a methodology for clinical diagnosis, applicable in an outpatient clinic, which includes complementary studies and genetic tests. It is impossible to remember all the information on over 2500 well defined syndromes. Computer tests such as OMIN, LDD and POSSUM are essential to recognize these syndromes.

School health services and community nutrition: a historical perspective.

The Bilbao School Health Service was created at the beginning of the century with the aim of preventing transmittable diseases among children as well as improving nutrition. At that time such services were established in many other countries. Since then, according to evolving societal changes and emerging needs, the Service has reoriented its scope and structure towards the Health Promotion scheme. Current tasks include health screening examinations and hygiene surveillance as well as preventive and health education programmes.

Craniometadiaphyseal dysplasia, wormian bone type.

We report on a 4-year-old boy with craniometadiaphyseal dysplasia (CMDD), wormian bone type. Component manifestations include a large head with prominent forehead, skull changes showing multiple wormian bones, wide long tubular bones without the usual metaphyseal flare, wide and short tubular bones without the normal diaphyseal constriction, and wide ribs and clavicles. In addition to these findings, the propositus, his brother, his father, and a paternal aunt all have parietal protuberances, which seem not related to CMDD. Parental consanguineity supports the autosomal recessive transmission of the condition.

Patients with geleophysic dysplasia are not always geleophysic.

We report on two boys with facial anomalies, small hands and feet, joint contractures, thick skin, unusual tiptoe gait and lysosome-like inclusions in the hepatocytes, compatible with a diagnosis of geleophysic dysplasia (GD). One of them also had fibrosis and fatty degeneration of the liver. In both, the facial appearance was different and neither had short stature nor progressive cardiac valvular disease. These clinical findings, consistent with a mild form of GD, support the notion that this disorder may have a broader spectrum than initially suspected.

[Rothmund-Thomson syndrome and osteosarcoma]. / Syndrome de Rothmund-Thomson et ostéosarcome.

BACKGROUND: The Rothmund-Thomson syndrome is a hereditary dermatosis frequently accompanied by less well-known non dermatologic features including osteogenic sarcoma. CASE REPORT: A girl developed the classical dermatologic features of the Rothmund-Thomson syndrome since the first months of life. When she was 6 years old, she suffered from painful limitation of motion of her left leg. X-rays, MNR imaging and bone scintigraphy showed typical features of osteosarcoma of the distal portion of the femur. Diagnosis was confirmed by histologic examination through open biopsy. The search for metastatic lesions was negative. The patient was given chemotherapy and the tumor was resected 45 days later followed by postoperative chemotherapy. CONCLUSION: About 12 similar cases of osteosarcoma have been reported in patients with the Rothmund-Thomson syndrome. A review of literature allows to recognize some peculiar features of such association.

Ultrasonographic growth and Doppler hemodynamic evaluation of fetuses of obese women.

All fetuses benefit from ultrasonographic estimation of gestational age and evaluation of growth patterns. Monitoring the pregnancies of obese women is perceived as more difficult than monitoring those of nonobese women. The aim of this study was to determine if maternal obesity affects the growth and Doppler resistance indices (RI) of the fetus. Twenty-eight women with a preconception weight > 90.7 kg underwent obstetric ultrasonographic evaluations from the 20th week of gestation. Their ultrasonographic data were compared with those of controls. Ten of the obese women developed gestational diabetes and had lower umbilical artery RIs for a given gestational age (P < .0001) than did those obese women without other medical complications, those with medically controlled pregnancy-induced hypertension or those from the control population. The relation between fetal unit weight and umbilical artery RIs was established. The pattern of RI changes was similar in all groups when estimated fetal weight instead of gestational age was used as the covariant. Fetal growth and Doppler velocimetry can be monitored adequately in obese women. Gestational diabetes significantly influences the pattern of fetal growth and the impedance to flow in the umbilical artery.

Clinical and pathologic findings in 2 siblings with congenital nephrotic syndrome.

We report the clinical and pathologic findings of 2 siblings affected with congenital nephrotic syndrome (CNS). The parents were a nonconsanguineous Mexican couple. The first sibling was born at term and developed proteinuria, hypoproteinemia, edema and ascites by its second month of life; he died septic at 6 months of age. The second sibling was diagnosed with congenital nephrosis during the second trimester of pregnancy. Prenatal demonstration of reno-placentomegaly can help in making the presumptive diagnosis of CNS in patients with high maternal serum and amniotic fluid AFP, normal acetylcholinesterase and normal karyotype. The pathologic findings of the kidneys of these siblings demonstrate that tubular microcysts are not critical to the disease process and are only the manifestation of a progressive disease in which the primary renal defect probably resides in a lack of integrity of the glomerular epithelial cells serving as filter.

Comparison of transvaginal sonography and bimanual pelvic examination in patients with laparoscopically confirmed endometriosis.

To determine the usefulness of noninvasive clinical tests to diagnose symptomatic endometriosis, we retrospectively reviewed the medical records of 91 patients with chronic pelvic pain and laparoscopically confirmed endometriosis. Thirty-seven women (41%) had pelvic peritoneal endometrial implants with adhesions; in 44 (48%) the ovaries were also affected, and in 10 (11%) the disease involved both the uterus and ovaries. Seventy-nine (87%) women had dysmenorrhea, dyspareunia, or both. Forty-three (47%) had a normal bimanual pelvic examination and 37 (41%) an unremarkable transvaginal sonographic evaluation (no significant difference). The women were divided into two groups: group 1, in whom the disease extended to the ovaries and uterus, and group 2, those in whom only peritoneal implants and adhesions were present. In group 1, 48 women (89%) had an abnormal ultrasonographic evaluation compared with only 4 (11%) in group 2 (p <0.001). Our findings indicate that bimanual pelvic examination and transvaginal sonography are equally accurate in detecting endometriosis; however, when the uterine surface and ovaries are involved, the latter is more informative. Therefore, patients with chronic pelvic pain, especially pain related to menstruation or coitus, should be evaluated laparoscopically to diagnose mild endometriosis adequately.

Serum erythropoietin in small for gestational age fetuses.

Serum erythropoietin (Epo) concentration was compared prenatally in adequate (AGA) and small for gestational age (SGA) fetuses. Fifty-four percutaneous umbilical blood samplings were paired with maternal blood and assessed for Epo, hematocrit and reticulocyte count. Seventeen fetuses were growth-retarded (SGA) on the basis of ultrasonic biometry and birth weight. Controls (AGA; n = 37) underwent cordocentesis for risk of toxoplasmosis, maternal age or malformations (CNS, GI, heart). No cytogenetic abnormality or infections was found in the 54 fetuses. Linear and polynomial regressions were fitted to determine correlations between parameters. Nonparametric Mann-Whitney test was used for comparison between groups. Gestational age at sampling was similar in AGA and SGA. The SGA fetuses had a higher Epo concentration than controls (p < 0.001). Fetal AGA Epo increased significantly throughout pregnancy (p < 0.01) but did not correlate with maternal Epo (p > 0.05). An inverse correlation was found between fetal reticulocyte count and Epo concentration (p < 0.02). The mechanism of high Epo level in SGA fetuses may involve low pO2 and hemoconcentration.

Ultrasonographic prenatal diagnosis of the 13q-syndrome.

A case is presented in which ultrasonographic examination led to the prenatal detection of a ring 13 chromosome in a fetus. At 18 weeks' gestation, the fetus presented with holoprosencephaly, an abnormal configuration of the lower extremities, and an atrial septal defect. Although the amount of amniotic fluid was normal, limb movements were never observed throughout pregnancy. The lower extremities were always flexed at the knee and talipes equinovarus was present. Hydrocephaly became apparent during the 2nd trimester. The ultrasonographic findings were confirmed by postpartum autopsy and X-ray examination. The ring chromosome was identified through amniocentesis and later verified in postpartum tissue.

The fetal transverse cerebellar diameter/abdominal circumference ratio: a gestational age-independent method of assessing fetal size.

The relationship between the fetal TCD and the AC throughout pregnancy was investigated in a prospective, cross-sectional study of 700 well dated, normal pregnancies between 14 and 42 weeks of gestation and tested in 30 known SGA infants. Fetal measurements included the TCD, AC, BPD, HC, and FL. The TCD/AC ratio was calculated for each patient. Statistical analysis using linear regression and Student's t-test was performed. Strong correlation existed between gestational age and transcerebellar diameter (R2 = 0.9464), between gestational age and AC (R2 = 0.9685), and between TCD and AC (R2 = 0.9561). The TCD/AC ratio was normally distributed with a mean +/- SD of 13.69 +/- 0.94% (median, 13.71%). The 10th and 90th percentiles were 12.50% and 14.86%, respectively. The ratio remained constant throughout pregnancy with respect to gestational age (R2 = 0.0084). A TCD/AC ratio greater than the 90th percentile was present in 87% (26/30) known SGA infants. The TCD/AC ratio is a stable, gestational age-independent parameter that may be useful in the early detection of fetal growth abnormalities.

Sonographic measurement of the fetal iliac bone: growth and relation to femur length in assessment of gestational age.

Diagnostic ultrasonography has given us the opportunity to diagnose several congenital malformations in utero. Skeletal dysplasias is a heterogeneous group of disorders of the skeleton. Although disorders of bone growth are often diagnosed in utero, it is usually a general diagnosis because the exact syndrome cannot be specified. This is due to the fact that many anomalies of the skeleton have similar features. The wing of the iliac bone can be either affected or normal in skeletal dysplasias and its appearance may help in the differential diagnosis. This study was undertaken to establish values for the width of the iliac bone wing during normal gestations and thus enable us to use it in the evaluation of fetal growth and the recognition of specific congenital anomalies.

Additional case of Neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia.

We report on a 3-1/2-year-old Spanish girl with the Neuhäuser megalocornea and mental retardation syndrome. A review shows that megalocornea, mental retardation, and, presumably, hypotonia, are the major manifestations for diagnosis. The facial appearance of the typical cases is characterised by frontal bossing, broad nasal bridge, mild hypertelorism, long upper lip, and small mandible.

Twin pregnancy. Ultrasonographically observed changes in fetal presentation.

The changes in fetal presentation throughout pregnancy were observed ultrasonographically in 332 sets of twins. Seventy-eight percent of the leading twins were vertex at 26-30 weeks' gestational age, 75% at 31-34 weeks and 81% at 35-38 weeks. The incidence of nonvertex presentation for either twin was 73.0%, 64.5% and 59.5% at the same gestational ages. The results are not significantly different from those on concordant twins delivered at the same gestations. Thus, one can counsel parents of twins at all gestational ages in regard to the potential for malpresentation.

Antenatal classification of hydrops fetalis.

Among 12,572 pregnant women referred for ultrasound examination from 1985-1990, 76 fetuses had ultrasonographic findings of hydrops fetalis, ten immune and 66 nonimmune. Fetuses with cystic hygroma (20), heart defects or arrhythmias (13), or other congenital anomalies (15) accounted for the majority of the nonimmune cases. Antenatal chromosomal studies were available in 42 fetuses with nonimmune hydrops, of which 14 (34%) were abnormal with seven monosomes and six trisomies. Seventeen cases of hydrops (22%) were classified as idiopathic because they had no recognizable etiology. It is concluded that: 1) The ultrasonographic incidence of fetal hydrops in referral centers can be as high as one in 165 pregnancies; 2) most cases of fetal hydrops are of the nonimmune type, which can occur in a low-risk population and can be detected with early second-trimester ultrasound screening; and 3) the complexity of this condition and the high rate of chromosomal abnormalities require referral to a high-risk center for evaluation and pregnancy management.