1/12. Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism.Leukocyte adhesion deficiency II has been described in only 2 patients; herein we report extensive investigation of another patient. The physical stigmata were detected during prenatal ultrasonographic investigation. Sialyl-Lewis X (sLex) was absent from the surface of polymorphonuclear neutrophils, and cell binding to E- and p-selectin was severely impaired, causing an immunodeficiency. The elevation of peripheral neutrophil counts occurred within several days after birth. A severe hypofucosylation of glycoconjugates bearing fucose in different glycosidic links was present in all cell types investigated, demonstrating that leukocyte adhesion deficiency II is not only a disorder of leukocytes but a generalized inherited metabolic disease affecting the metabolism of fucose.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/12. Acute oligohydramnios and deteriorating fetal biophysical profile associated with severe preeclampsia.Acute changes in fetal biophysical profile (BPP) status usually include rapid cessation of all nonessential acute biophysical activities, yet not necessarily an acute decrease in the amniotic fluid volume, or oligohydramnios. A 36-year-old para 3 with early third-trimester severe preeclampsia, mild placental abruption, and fetal growth restriction, with a reassuring BPP of 8/8, was managed expectantly with intravenous magnesium sulfate, hydralazine, and intramuscular corticosteroids. Within 20 h of admission a marked change in the BPP was noted, with a score of 0/8. amniotic fluid index (AFI), which on admission had been 20.1, progressively became 0, despite a stable normovolemic maternal status. At immediate cesarean, a mildly acidotic and hypoxic fetus was delivered which subsequently did well. This case supports the concept that acute oligohydramnios may develop rapidly in the presence of acute fetal hypoxemia.- - - - - - - - - - ranking = 6keywords = physical (Clic here for more details about this article) |
3/12. Abnormal nonstress test yet otherwise reassuring biophysical profile in a compromised fetus with severe antepartum intracranial hemorrhage.The fetal biophysical profile (BPP), a widely accepted modality of assessment of fetal well-being, significantly shortens the time required to document reassuring fetal testing and exhibits lower false-positive and false-negative rates than conventional nonstress testing. We describe a case in which a patient presenting for fetal testing due to suspected fetal growth restriction at 29 weeks of gestation with recent onset of decreased fetal movements exhibited a concerning nonreactive nonstress test. BPP assessment revealed active fetal tone, movements, breathing movements and amniotic fluid volume (BPP score 8/8). Despite the reassuring BPP, continued abnormal nonstress testing led to subsequent abdominal delivery of an acidotic infant with evidence of a massive antepartum intracranial insult consisting of frontal intraparenchymal hemorrhage and a right temporal-occipital cortical infarction. This case exhibits limitations of the BPP.- - - - - - - - - - ranking = 5keywords = physical (Clic here for more details about this article) |
4/12. Maternal uniparental heterodisomy for chromosome 2: detection through 'atypical' maternal AFP/hCG levels, with an update on a previous case.We report a case of maternal uniparental disomy 2, detected through routine screening of placental karyotypes following the finding of 'atypical' AFP/hCG levels in the second trimester, with intrauterine growth retardation (IUGR) but otherwise normal outcome at term. Although the child remained small, subsequent early physical and mental development has also been normal. Additionally, we report long-term follow-up of an earlier case, again with relatively normal physical and mental development. The significance of atypical AFP/hCG results and the predictive value of prenatal testing for UPD2 in trisomy 2 confined placental mosaicism (CPM) cases are discussed.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
5/12. Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de lange syndrome.We describe two independent cases of Brachmann-de lange syndrome (BDLS) in which second trimester fetal sonographic studies showed the presence of a diaphragmatic hernia and upper limb anomalies. In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third trimester. Postnatal and postmortem physical examinations demonstrated typical physical findings associated with BDLS. The prenatal diagnosis of diaphragmatic hernia with associated anomalies should prompt consideration of an underlying genetic etiology.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
6/12. Multiple congenital symmetric skin dimples.skin dimples are seldom observed in sites other than the face. We report on a male premature child who was seen at the age of 2 months for the evaluation of cutaneous depressions symmetrically located on the shoulders, elbows and in the sacral region. skin dimples have sometimes been considered a benign autosomal dominant trait. However, several authors have reported these cutaneous defects in a variety of conditions like congenital syndromes, infections, inborn errors of metabolism and mechanical trauma. In our case, the aetiology is unknown, even though maternal drug or infective exposure can reasonably be excluded as well as traumatic events. At a 3-year follow-up, the patient shows a normal psychophysical development. This appears to be the first case of a child presenting congenital, symmetric dimples in three different areas.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/12. Inherited ring chromosome 8 without loss of subtelomeric sequences.We report the first case of inherited ring chromosome 8 syndrome without loss of subtelomeric sequences. The proband is a 6 1/2-year-old boy with short stature, microcephaly, mild mental retardation, and behavioral problems including hyperactivity and attention deficit. His mother presented the same physical features but intelligence was normal. family history also revealed an uncle and a grandmother, with short stature and microcephaly. Moderate mental retardation was reported in the uncle. Karyotypes and fluorescence in situ hybridization (FISH) analyses were performed on peripheral blood lymphocytes for both child and mother. The child's karyotype was reported as 46,XY,r(8)(p23q24.3)[24]/45,XY,-8[2] and the mother's karyotype 46,XX,r(8)(p23q24.3)[22]/45,XX,-8[2]/47,XX,r(8)(p23q24.3), r(8)(p23q24.3)[1]. FISH studies showed no deletion of subtelomeric sequences for both child and mother indicating that no or little chromosomal euchromatic material has been deleted. These findings indicate that ring chromosome 8 without loss of subtelomeric sequences can be inherited and that carriers in a same family present with cognitive function ranging from mild mental retardation to normal intelligence.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/12. Double aneuploidy involving trisomy 7 with Potter sequence.We report a prenatal case of double aneuploidy (consisting of chromosome 7 and X) with the features of Potter sequence. Of the stillborn fetus, skin fibroblast cultures were performed and fluorescence in situ hybridization (FISH) technique was also used for further investigation. On physical examination; the fetus was found to have malformed ears, micrognatia, hypertelorism, abnormal extremities, rocker-bottom feet and abnormal external genitalia and polycystic right kidney was seen after an extensive autopsy. As amniocentesis and cordocentesis materials revealed x chromosome mosaicism, trisomy 7 was detected in the skin fibroblast culture of the ex fetus and karyotype evaluated as composite; 46~47,X, 7,-X[cp18]. FISH results confirmed the double aneuploidy and also revealed XX and XXXX cell lines. Comparison with the previously reported cases of trisomy 7 with Potter syndrome suggests a possible link (if not coincidental) between trisomy 7 and Potter syndrome in our case. This is the first reported case of double aneuploidy involving trisomy 7 with the features of Potter syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/12. Fetuses with trisomy 21 having conflicting findings on antenatal testing for fetal well-being.OBJECTIVE: This series reports 3 cases with conflicting antenatal sonographic findings: intrauterine growth restriction, absent or reversed end-diastolic flow in umbilical artery Doppler imaging, and reassuring biophysical test results. methods: We conducted a retrospective review of medical records. RESULTS: Three fetuses had intrauterine growth restriction and absent or reversed end-diastolic flow in umbilical artery Doppler studies, but the biophysical test results and amniotic fluid volume assessment were normal. We found no other signs of fetal jeopardy from placental insufficiency. In these cases, trisomy 21 was established after birth by karyotyping. Ventricular septal defects and aortic regurgitation were noted in 2 of the 3 affected fetuses. CONCLUSIONS: When there is an unusual combination of antenatal sonographic findings such as presented here, fetal cardiac abnormalities and aneuploidy should be considered.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
10/12. Intrauterine growth retardation and early adolescent growth spurt in two sisters.Two sisters who presented with a similar growth pattern are described. They delivered with idiopathic intrauterine growth retardation and had an early adolescent growth spurt. The physical and endocrine findings suggested a potential relationship between intrauterine growth retardation and early puberty.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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