Search Results
Results 201 - 250 of 770
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Ong S - - 2007
BACKGROUND: Adequate contemporary information to counsel patients with a prenatal diagnosis of holoprosencephaly is lacking. We addressed this using data from the West Midlands Congenital Anomaly Register (WMCAR), a population-based malformation register, during a time where technological improvements have been stable and anomaly screening is well established. METHODS: Cases were ...
Parry-Jones N - - 2007
Mantle cell lymphoma (MCL), characterised by t(11;14)(q13;q32), has a poor prognosis. Many cases have additional cytogenetic abnormalities, and often have a complex karyotype. Fluorescence in situ hybridisation (FISH) was used to study 60 cases with leukaemic presentation of MCL, to determine the frequency, clinical correlations and prognostic impact of a ...
Yetgin S - - 2007
Nonimmune hydrops fetalis may occur as a result of different etiological conditions and in about one-third of cases no cause could be identified. Here, we report two cases of nonimmune hydrops fetalis associated with hereditary spherocytosis and hemophagocytic hystiocytosis. We think that babies with hydrops fetalis born of consanguineous parents ...
Shimabukuro Fumi - - 2007
Congenital high airway obstruction syndrome (CHAOS) has been reported to be fatal. Ten cases of CHAOS that underwent ex utero intrapartum treatment (EXIT) procedure to secure the fetal airway have been reported. A 36-year-old woman (gravida 3, para 2) was referred to our hospital at 22 weeks of gestation. Sonography ...
Gindes Liat - - 2007
OBJECTIVE: Isolated levocardia is a rare type of situs inversus in which the heart is in the normal levo position, but the abdominal viscera are in the dextro position. We aim to describe our experience with prenatal diagnosis and management in fetuses with isolated levocardia. METHODS: Of all the cases ...
Sanada M - - 2007
The unbalanced translocation, der(1;7)(q10;p10), is one of the characteristic cytogenetic abnormalities found in myelodysplastic syndromes (MDS) and other myeloid neoplasms. Although described frequently with very poor clinical outcome and possible relationship with monosomy 7 or 7q- (-7/7q-), this recurrent cytogenetic abnormality has not been explored fully. Here we analyzed retrospectively ...
Liao Can - - 2007
OBJECTIVE: To analyze the etiologies of nonimmune hydrops fetalis (NIHF) for a southern section of China. METHODS: 138 cases of NIHF presenting after 20 weeks' gestation over a 10-year period were reviewed. RESULTS: The causes of fetal hydrops were identified in 92.0%. Homozygous alpha-thalassemia dominated as the cause of NIHF ...
Loureiro T - - 2007
Cantrell's pentalogy is a very rare congenital anomaly. The hallmark of this condition is the presence of ectopia cordis and an abdominal wall defect. Its association with craniorachischisis is even more infrequent with just a few cases reported in the literature. The authors describe a case of a prenatal ultrasound ...
Coccé M C - - 2007
We report on a novel case of pure partial tandem duplication 1q42q43 confirmed by fluorescence in situ hybridization (FISH). We compare the manifestations of our patient with similar cases previously reported. We conclude that the most common clinical manifestations of trisomy 1q42qter are prenatal and postnatal growth retardation, relative macrocephaly, ...
Brugnara Milena - - 2007
BACKGROUND: Congenital mid-ureteral stricture is a rare malformation of the ureter leading to prenatal and neonatal hydronephrosis. Site characterization of the narrowing is important to optimize the surgical approach to the newborn affected by hydronephrosis. CASE PRESENTATION: We report a female EM with a rare form of hydronephrosis, (i.e. mid-ureteral ...
Mantas N - - 2007
Dilatation of the fetal umbilical vein is a rare, most commonly isolated finding. Approximately 100 cases have been reported in the literature that describe different management approaches, especially regarding the time of delivery. We present a new case of umbilical vein dilatation diagnosed at 23 weeks' gestation as an isolated ...
Thapar Pinky M - - 2006
Extra-adrenal pheochromocytomas (paragangliomas) are rare. We report the case of a 20-year-old female at 15 weeks gestation, who was detected to have a large paraganglioma (6.5 x 5 cm) in the organ of Zuckerkandl during an antenatal visit. After medical termination of the pregnancy, successful laparoscopic excision of the paraganglioma ...
Brantberg A - - 2006
OBJECTIVE: Despite the relatively common occurrence of imperforate anus, prenatal diagnosis is rarely reported. In this study, we investigated the presence and diagnosis of imperforate anus along with strategies for improving prenatal diagnosis of the condition. PATIENTS AND METHODS: Fetuses and infants with imperforate anus who had been examined prenatally ...
Bord Angelika - - 2006
BACKGROUND: Skin tags, or acrochordons, are benign, soft, fleshy tumors that are composed of hyperplastic epidermis covering a dermal connective tissue stalk. METHODS: Case report of a congenital perineal skin tag that presented as a perineal tumor during second-trimester sonographic scan at 23 weeks' gestation. Literature review of the medical ...
Gorincour G - - 2006
OBJECTIVE: To evaluate the functional prognosis of kidneys affected prenatally by urinomas. METHODS: This was a retrospective review of cases of fetal urinoma reported in the literature, as well as two of our own cases. RESULTS: Twenty-three patients with a prenatal diagnosis of urinoma (five bilateral) were included in the ...
Harmath Agnes - - 2006
This is a review of cases of perinatally diagnosed congenital diaphragmatic hernia (CDH) with associated malformations with regard to time of diagnosis, side of hernia, associated malformations, and outcome. The authors analyzed the data of CDH cases with associated malformations from records of the I. Department of Obstetrics and Gynecology, ...
Lee Chang Sub - - 2006
OBJECT: The prognosis of fetal ventriculomegaly (FVM) varies because of the disease's heterogeneity and the diversity of accompanying anomalies. Moreover, the cases that are referred to neurosurgeons may have different clinical features from those typically encountered by obstetricians. The object of this study was to delineate the prognosis of FVM ...
Hysert Meaghan - - 2006
OBJECTIVES: To present a series of prenatally detected cases of recurrent pericentric inversions with euchromatic breakpoints and to review the literature to determine whether parental karyotyping is required for genetic counselling. METHODS: Cases of recurrent pericentric inversions with euchromatic breakpoints were collected from Canadian Cytogenetic Laboratories. Cases included inversions for ...
Berg C - - 2006
OBJECTIVE: To evaluate the conditions associated with absent ductus venosus (ADV) diagnosed by prenatal ultrasonography. METHODS: Retrospective review of 23 cases with ADV diagnosed in two tertiary referral centers with a general screening policy concerning Doppler assessment of the ductus venosus. The results are discussed together with 63 cases from ...
Faye-Petersen Ona - - 2006
Otocephaly, characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia, is an extremely rare anomalad, identified in less than 1 in 70,000 births. The malformation spectrum is essentially lethal, because of ventilatory problems, and represents a developmental field ...
Peng Hsiu-Huei - - 2006
OBJECTIVES: We analyzed the prenatal presentations and perinatal outcomes of Klippel-Trenaunay-Weber syndrome involving fetal thigh in order to provide relevant information for prenatal counseling. METHODS: We reviewed our own cases and searched for cases from Medline that met the criteria of Klippel-Trenaunay-Weber syndrome involving fetal thigh. Those with isolated hemangioma, ...
York Douglas G - - 2006
Fetal lymphangiomas are rare congenital anomalies of the lymphatic system most commonly presenting in the head and neck. Cystic abdominal lymphangiomas are more rare with only a few cases reported prenatally. We report a case of a prenatally detected abdomino-perineal lymphangioma that mimicked the more fatal prenatally detected sacrococcygeal teratoma ...
Halder Ashutosh - - 2006
Conventional cytogenetic studies have revealed more number of females in spontaneous abortion and it has been assumed that a large proportion of those were resulted from maternal contamination and overgrowth of maternal decidua in long term culture. In this study we have attempted to overcome difficulties of conventional cytogenetics by ...
Morales José A - - 2006
In the present study we describe a patient with characteristic brachydactily, developmental delay and interstitial del 13q22-->q31. After the review of the literature, few cases sharing similar chromosomal deletions were found and they displayed little resemblance with our patient. We discuss the phenotype correlation among the deleted regions in such ...
MacKenzie J J - - 2006
Fragile X syndrome (FRX) is the most common inherited cause of mental retardation affecting approximately 1/4000 males and half as many females. Mosaicism has been reported in 12-41% of male cases. We present a 47-year-old male with the typical FRX phenotype referred for an evaluation of mental retardation and a ...
Vogt Julie - - 2006
Relatively, few reports of deletions involving the distal long arm of chromosome 4 (4q) exist. Five further cases are described and the findings are compared with those in previous literature reports. Distal 4q deletions may be recognized by the distinctive appearance of the fifth finger, which is stiff with a ...
Puvabanditsin Surasak - - 2006
Colpocephaly is an abnormal enlargement of the occipital horn of the lateral ventricle, also described as persistence of the fetal configuration of the lateral ventricles. Since it was first described, colpocephaly has been found in association with several abnormalities of the brain. Various etiologies have been postulated, including intrauterine/perinatal injuries, ...
Theodoridou Stamatia - - 2006
Hemoglobin E-Saskatoon (beta22-Glu-Lys) is found worldwide but is extremely rarely. Two cases of pregnant women who carried the abnormal hemoglobin and the various problems that arise from it are reported. A discussion of the combinations with other abnormal hemoglobin is also presented.
Fefer Sergio - - 2006
Hydronephrosis is the most common genitourinary tract anomaly identified on prenatal ultrasound studies. Ureteropelvic junction obstruction accounts for approximately 50% of the cases of prenatally detected hydronephrosis. Postnatal evaluation allows for the identification of the cause and further management. Rarely, in utero intervention may be performed for severe oligohydramnios associated ...
Hidaka Nobuhiro - - 2006
OBJECTIVE: The purpose of this report is to describe the in utero sonographic appearance of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and examine the role of vesicocentesis. METHODS: Two cases of the sonographic appearance of MMIHS were reviewed. We performed vesicocentesis in 2 fetuses with MMIHS and performed vesicoamniotic shunting in 1 ...
Neiswanger Katherine - - 2006
OBJECTIVES: To report five cases of mosaic trisomy 16 with variable outcomes in the context of the literature on mosaic trisomy 16. Complications in these cases include preeclampsia, IUGR, fetal anomalies, and death, with no predictable pattern. METHODS: Observation of five new cases and statistical analysis of 125 reported cases ...
Niedrist D - - 2006
We collected records of 352 cases of trisomy 18 karyotyped between 1964 and May 2003 from the two major cytogenetic laboratories in Northeastern Switzerland. For more detailed information about the cases we contacted the referring physicians and/or the families of the patients. In this way we collected data about survival ...
Moskovitz Moti - - 2006
This case report presents the dental management of a 13-year-old girl with mosaic trisomy 9. She had: (1) severe psychomotor retardation; (2) short stature; (3) progressive microcephaly; (4) flat feet; (5) genu valgum; and (6) severe kyphoscoliosis. Dysmorphic facial features included: (1) maxillary prognathism; (2) narrow high-arched palate; (3) short ...
Bornstein Eran - - 2006
OBJECTIVE: Several studies have noted an increased prevalence of pyelectasis in male fetuses. It is speculated that pyelectasis represents a normal physiologic variant in males, whereas its presence in females indicates an increased risk of chromosomal abnormalities. Thus, we sought to investigate the association between fetal gender and the risk ...
Lubusky Marek - - 2006
OBJECTIVES: Enterolithiasis (multiple calcifications of intraluminal meconium) is a rare, prenatal ultrasonographic finding. In this study, our aim was to evaluate the prenatal diagnostic features and discuss the management of the patients. METHODS: The data of two cases of prenatally diagnosed fetal enterolithiasis were collected from ultrasound scan, magnetic resonance ...
Patil S J - - 2006
OBJECTIVES: To correlate prenatal and postnatal findings of urorectal septum malformation sequence and to study spectrum of malformation. METHODS: Nine cases were reviewed with features suggestive of urorectal septum malformation (URSM) sequence. Associated anomalies were studied. Sex of the fetus was assigned by karyotype when available or by examination of ...
Bakshi S R - - 2006
We present here the first case of constitutional tetrasomy 18p from India. A 3 year old female with developmental delay and dysmorphic features revealed 47,XX,+mar karyotype. The small meta-centric marker chromosome was identified as i(18p) with m-FISH followed by m-BAND. Parents and a normal sibling of the proband revealed normal ...
Sankar V H - - 2006
OBJECTIVES: To present a comprehensive analysis of autopsy findings in 206 fetuses referred to our genetic center and to assess the clinical utility of fetal autopsy in reaching a final diagnosis, which is essential for counseling regarding the risk of recurrence. We also compared the autopsy findings with prenatal ultrasound ...
Salomon Laurent J - - 2006
BACKGROUND: Prenatal management of abnormal abdominal situs is challenging since prognosis is highly variable depending on the associated malformations. METHODS: The authors report on two cases of ambiguous abdominal situs. Prenatal management included specialized ultrasound examination of fetal anatomy and heart, amniocentesis for determination of the fetal karyotype and fetal ...
Bronsteen Richard - - 2006
OBJECTIVE: This study was undertaken to investigate the natural history and clinical importance of choroid plexus separation (a > or = 3 mm distance between the choroid plexus and medial wall of the lateral ventricle) as an isolated finding in the second trimester. METHODS: This was a 5-year retrospective review ...
Araujo Júnior Edward - - 2006
The deletion of the short arm of the chromosome 13, also known as 13q syndrome, is an extremely rare chromosomal disorder. Clinical manifestations include retinoblastoma, brain anomalies, mental and growth retardation, as well as renal, cardiac, gastrointestinal, facial, lip and digital defects. Antenatal diagnosis is suspected when the presence of ...
Morerio Cristina - - 2006
The presence of acquired clonal cytogenetic abnormalities in hematopoietic cells is one of the diagnostic hallmarks of myelodysplastic syndromes (MDS). Such anomalies may help in defining prognostic groups. We analyzed eight pediatric MDS, and herein describe three new cases, one de novo and two therapy-related, presenting an unbalanced rearrangement of ...
Kor-Anantakul Ounjai - - 2006
Complete trisomy 9 is a very rare chromosome aneuploidy, associated with specific patterns of multisystem dysmorphism and a wide spectrum of congenital anomalies. We present a case of complete trisomy 9 with prenatal sonographic findings in the second trimester. The combination of sonography and karyotyping from cordocentesis enabled us to ...
Willis M J H - - 2006
OBJECTIVES: The karyotype 46,X,isodicentric Y has rarely been reported in the context of prenatal diagnosis. The literature is replete with descriptions of individuals with 46,X,isodicentric Y/45,X mosaicism, presenting with a spectrum of phenotypes. The postnatal phenotype is believed to depend on the extent of mosaicism in the gonads or other ...
Fowler D J - - 2006
OBJECTIVES: To examine the accuracy of sonographic findings of routine ultrasound examinations in patients with a proven histological diagnosis of complete or partial hydatidiform mole referred to a supra-regional referral center, and to examine the relationship of sonographic findings to gestational age across the first and early second trimesters. METHODS: ...
Kawabata Hiroshi - - 2006
Three cases of myelodysplastic syndrome (MDS) complicated with inflammatory intestinal ulcers all had cytogenetic abnormalities with trisomy 8. The first two patients were diagnosed with intestinal Behçets disease and were successfully treated with salazosulphapiridine, and the third patient died after leukemic transformation. We review the reported cases of MDS complicated ...
Venkat-Raman Narayanaswamy - - 2006
Hydrops fetalis is associated with a wide range of abnormalities. In about 20% of cases of non-immune fetal hydrops, no cause is found despite investigations including routine post-mortem examination and enzyme studies may be indicated to detect an underlying metabolic storage disease. Fetal hydrops due to mucopolysaccharidosis type VII is ...
Koukoura O - - 2006
Anencephaly is a rare congenital anomaly in which the forebrain, meninges, vault of the skull, and scalp all fail to form. We report a case of a 32-year-old gravida 2 woman with an anencephalic fetus detected at the 21st gestational week. She had a history of an intrauterine fetal death ...
Kazmi Syed Shuja - - 2006
BACKGROUND: To find out about the prenatal diagnosis rate of myelomeningocele (MMC) by ultrasound scan in patients referred to the Children's Hospital Medical Center in Tehran, Iran from July 2004 to July 2005. METHODS: We included 140 children born with MMC and who were referred for management, surgery and treatment ...
Celentano Claudio - - 2006
We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects. The diagnosis of lissencephaly was made in utero, allowing the rapid characterization of the phenotype at birth. Because previously reported cases ...
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