Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome.

We report on a 'new' lethal familial short-limb bone dysplasia associated with multiple anomalies in three sibs born to Arabic-Muslim consanguineous healthy parents. Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac ventricular septal defect (VSD) and agenesis of the corpus callosum. Radiological abnormalities included cloverleaf skull, hypoplastic clavicles and scapulae, thin, wavy cupped ribs, flat vertebral bodies with coronal clefting and several unossified vertebral pedicles and hypo-ossification of the pubic bone.

Rate heterogeneity among lineages of tracheophytes: integration of molecular and fossil data and evidence for molecular living fossils.

Many efforts to date evolutionary divergences by using a molecular clock have yielded age estimates that are grossly inconsistent with the paleontological evidence. Such discrepancies often are attributed to the inadequacy of the fossil record, but many potential sources of error can affect molecular-based estimates. In this study, we minimize the potential error caused by inaccurate topology and uncertain calibration times by using a well-supported tree, multiple genes, and multiple well-substantiated dates to explore the correspondence between the fossil record and molecular-based age estimates for major clades of tracheophytes.

The genetic sonogram: its use in the detection of chromosomal abnormalities in fetuses of women of advanced maternal age.

Real-time and color Doppler ultrasound were used to examine 103 second trimester fetuses with abnormal chromosomes (trisomies 13, 18, 21 and sex aneuploidy =86; other =17) and 2000 controls from women of advanced maternal age who electively underwent genetic amniocentesis. Ten ultrasound markers were analyzed and likelihood ratios were computed for each abnormal ultrasound finding and for a normal ultrasound study if none of the ten markers were present. Abnormal ultrasound markers were present in 81% of fetuses with abnormal karyotypes.

Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.

We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. There is a remarkable similarity between our patient and six previously reported infants subsequently categorized as having a distinct entity: Raine syndrome. Autosomal recessive inheritance is postulated based on parental consanguinity in several of the previous cases and in our patient.

Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16.

Stable centromeric breakage in non-acrocentric chromosomes and balanced reciprocal translocation mosaicism are both rare events. We studied a family in which the mother had mosaicism for a balanced reciprocal translocation between chromosomes 10 and 16 which was associated with a break in chromosome 16 centromere alpha-satellite DNA ¿146,XX,t(10;16)(q11.2;q11.

Influence of prenatal diagnosis on congenital heart defects.

The impact of prenatal detection of congenital heart defects (CHD) using the four-chamber screening examination cannot be accurately ascertained because of the wide range of detection rates that affect the cost associated with it. Assuming a screening ultrasound cost of $200 per examination, recent studies in which examiners not trained in fetal echocardiography obtained and interpreted the four-chamber view only identified 5.3% of CHD, for a cost of $476,190 per malformation.

Molecular cytogenetic characterization of 18;21 whole arm translocation associated with monosomy 18p.

Monosomy of the entire short arm of chromosome 18 as a result of an 18;acrocentric whole arm translocation has been reported in over 20 patients, 3 of which were familial. The centromeric origin in de novo cases has not been characterized. We report molecular cytogenetic studies of two prenatally-detected de novo cases.

Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review.

We report on a 30-year-old women with de novo ring chromosome 12 mosaicism, 46,XX, r(12)(p13.3q24.3)/46,XX.

Color Doppler examination of the outflow tracts of the fetal heart: a technique for identification of cardiovascular malformations.

The objective was to describe a technique using color Doppler to identify the outflow tracts of the fetal heart by directing the ultrasound transversely through the fetal chest. One hundred second- and third-trimester control fetuses were examined with real-time and color Doppler ultrasound. The ultrasound beam was directed cephalad, in the same transverse plane used to image the four-chamber view, and the outflow tracts were examined.

Color Doppler identification of a pericardial effusion in the fetus.

The aim of the study was to determine whether color Doppler identifies abnormal fluid within the pericardial space of the fetal were referred for heart. Second- and third-trimester fetuses diagnostic ultrasound. The four-chamber view of the fetal heart was imaged with real-time ultrasonography and examined for the presence or absence of separation of the pericardium from the epicardium, which extended from the atrioventricular junction toward the apex of the ventricle.

The association between an abnormal nuchal skin fold, trisomy 21, and ultrasound abnormalities identified during the second trimester of pregnancy.

Fetal echocardiography and a detailed non-cardiovascular ultrasound examination were performed prospectively between 14 and 23 weeks of gestation prior to genetic amniocentesis in 2800 consecutive fetuses at increased risk for trisomy 21 due to advanced maternal age or a low maternal serum alpha-fetoprotein. An abnormal nuchal skin fold was defined as >or=6 mm. Of 2800 fetuses, 23 (0.

Ductus venosus index: a method for evaluating right ventricular preload in the second-trimester fetus.

This study was designed to examine ventricular preload by measuring the ductus venosus index during the second trimester of pregnancy. A total of 137 women were entered into the study. Each fetus was examined with real-time, color and pulsed Doppler ultrasound.