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.

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.

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.

Fetal macrocytosis in association with chromosomal abnormalities.

Mean red cell volume (MCV) was determined in 264 fetuses between 15-41 weeks. After exclusion of anemic, hypoxic, and chromosomally abnormal fetuses, the MCV in 208 umbilical venous samples was shown to decrease with gestation (r = 0.64; P less than .001), and a normal range was constructed by linear regression analysis. An elevated MCV was found in both fetuses with triploidy, in four of five with monosomy X, and in four of ten with trisomies 18 or 21. The MCV was similarly raised in four of five fetuses with gross anomalies in whom cytogenetic cultures had failed. Significant correlations were found in chromosomally abnormal fetuses between the elevation in MCV and both the nucleated red cell (r = 0.69; P less than .01) and reticulocyte counts (r = 0.57; P less than .05). There was a similar correlation with nucleated red cells in 16 severely anemic fetuses with Rh disease, 12 of whom had a raised MCV. Elevation in MCV was unrelated to hypoxia. Macrocytosis had a sensitivity of 71% and a specificity of 95% in the second trimester for predicting an abnormal karyotype in nonanemic fetuses (kappa index 0.60). Fetal MCV may provide clinically useful information while one awaits culture results. We suggest that karyotyping be considered in fetuses undergoing blood sampling for other indications in whom the MCV is raised.

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.

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.

[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.

[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.

Combined intravascular-intraperitoneal transfusions in hydropic twins due to Rh (D) alloimmunization.

Fetal hydrops due to Rh (D) alloimmunization can be reversed by ultrasound-guided intravascular transfusions with improvement in perinatal morbidity and mortality. We report a case of in utero intravascular transfusion in hydropic twins which reversed all the hydropic findings within 3 days. A simple intraperitoneal transfusion was performed in each twin 2 weeks later, and only one neonatal exchange transfusion was required for the ultimate survival of both twins.

Developmental defects of the cerebellum. A radiologic and anatomic investigation.

A classification of cerebellar malformations is proposed, based on more than fifty cases with varying degrees of abnormality, where comparative anatomic and radiologic analysis was carried out. The anatomic information was collected at surgery or autopsy and the radiologic evidence was derived from encephalography or ventriculography and vertebral angiography. The malformations were classified in four groups in order of gravity, with regard to the morphologic and etiologic features: (1) total or sub-total agenesia of the cerebellar structures (vermis and hemispheres); (2) almost complete agenesia of the vermis associated with the Dandy-Walker malformation; (3) almost complete agenesia of the vermis without the Dandy-Walker malformation; (4) partial defects of the vermis, which could be separated into four subdivisions.

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.

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.

[Long-arm deletion of chromosome 1: 46,XY, del (1) (Q42) (author's transl)]. / Delección del brazo largo del cromosoma 1: 46,XY, del (1) (q42).

A case of long-arm deletion of chromosome No. 1: 46,XY, del (1) (q42) is reported. From the revised bibliography only two cases are comparable cytogenetically, not so phenotypically. The usefulness of the recent banding techniques in the precise diagnosis of small structural anomalies of the chromosome is outlined and the difficulty in establishing the relationship between chromosomal alteration and phenotypical characters are commented.

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.

[Camptomelic dysplasia associated with true hermaphroditism]. / Displasia campomélica asociada a hermafroditismo vero.

Authors present a new case of campomelic dysplasia associated to true hermaphroditism. Clinical and radiological findings are described. Ethiopatogenical factors are widely discussed, and special correlation between campomelic dysplasia and sexual reverse, is noted, according to new concepts on H-Y antigen. Differential diagnosis with neonatal chondrodystrophies associated with respiratory distress and congenital incurved extremities are also reviewed.

Doppler evaluation of the fetoplacental circulation in the latent phase of preterm premature rupture of membranes.

Blood velocity waveform analysis by pulsed Doppler ultrasonography in preterm premature rupture of membranes is described. Reduced amounts of amniotic fluid did not impair determination of the resistance indices from the umbilical artery. Good results were obtained from the internal carotid artery in 82% of cases. Failure in measurements at the internal carotid artery occurred when fetal head engagement prevented good study planes. Ninety-three percent of umbilical artery determinations fell within the normal limits for our control population as did 89.2% of those at the internal carotid artery. No differences in the resistance indices could be attributed to the length of the latent period in prematurely ruptured membranes or subclinical chorioamnionitis. Therefore, if a mother or fetus has an underlying condition that affects fetoplacental circulation, the resulting abnormal blood velocity waveform should reflect this condition rather than the effect of ruptured membranes.

[Congenital type I fiber hypotrophy myopathy (author's transl)]. / Miopatías congénitas con hipotrofia de fibras tipo I.

Five cases with type I fiber hypotrophy myopathy from two families are reported. The first two cases belong to the type I fiber hypotrophy and central nuclei. Six cases have already been published. In addition to hypotonia, obvious thoracic anomalies are associated. The three other cases are members of the second sibship and belong to the type I fiber hypotrophy without central nuclei nor myothony and show the typical phenotypic characters: elongated face and adynamic appearance. Out of these three brothers, two show no progress and the other is getting worse slowly. The pathological findings together with the evolutive-clinic pattern of these patient are confronted with those published by other authors and sugestions are made to differentiate these two forms and to establish their relationships with the other types of congenital myopathies, mainly with centronuclear myopathy and congenital fiber type disproportion.