1/10. Congenital diaphragmatic hernia: atypical presentation.We report an unusual case of the left sided diaphragmatic hernia in which the left lobe of the liver blocked the herniation of the intestinal contents into the chest and the clinical symptoms were not apparent at birth. The patient was a full term infant born to a mother whose antenatal care included apparently normal sonographic evaluation. She developed increasing tachypnea within two hours period after birth. auscultation of the chest revealed bilateral normal aeration. No cardiac murmurs were heard. An X-ray of the chest revealed a left sided haziness without any mediastinal shift. Progressive decrease in the breath sounds was noted over the left base. A CT examination demonstrated a left sided diaphragmatic hernia, with herniation of the left lobe of the liver causing compression of the lung. No loops of the bowel were observed in the thoracic cavity. She underwent laparotomy and repair of diaphragmatic hernia. This case history illustrates that large left sided diaphragmatic hernias may be missed on antenatal sonogram and may not present with clinical signs until several hours after birth. Both physical examination and routine chest X-ray may prove inconclusive and a CT scan is necessary to make a definitive diagnosis.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/10. 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 = 1.1553942665005keywords = physical examination, physical (Clic here for more details about this article) |
3/10. early diagnosis of wolf-hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia.wolf-hirschhorn syndrome (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, seizures/epilepsy. Closure defects of lip or palate, and cardiac septum defects occur in 30-50% of cases. Its cause is a deletion in the short arm of chromosome 4. We present a male patient, born after 37 weeks gestation, as the fourth pregnancy of non-consanguineous healthy parents, with unilateral cleft lip and palate, hypertelorism, a right-sided ear tag, and mild epispadias. At age 10 weeks he developed acute respiratory distress and acute bowel obstruction requiring emergency laparotomy. This revealed a left-sided posterolateral diaphragmatic defect, type Bochdalek, with incarceration of the small intestines necessitating major bowel resection. Clinical genetic investigation suggested a chromosome anomaly, but regular karyotyping was normal. However, FISH analysis showed a microdeletion in the short arm of chromosome 4 (4p-), consistent with WHS. A combination of this syndrome with congenital diaphragmatic hernia (CDH) has been rarely described. CDH can present either as an isolated defect at birth, or with multiple congenital abnormalities, or as part of a defined syndrome or chromosomal disorder. Therefore CDH, although not common in WHS, can lead to its diagnosis relatively early in life. We strongly recommend a clinical genetic evaluation of each CDH patient with facial anomalies taking into consideration 4p- deletion syndrome.- - - - - - - - - - ranking = 0.15539426650054keywords = physical (Clic here for more details about this article) |
4/10. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at 2q37.1. In comparing these patients to 60 previously reported individuals with 2q terminal deletions, certain physical abnormalities are loosely associated with positions of breakpoint. For example, facial features (e.g., prominent forehead, depressed nasal bridge, and dysmorphic ears and nose), short stature, and short hands and feet were frequent in patients with breakpoints at or proximal to 2q37.3. Reports of horseshoe kidney and wilms tumor were limited to patients with a breakpoint at 2q37.1, and structural brain anomalies and tracheal anomalies were reported only in patients with breakpoints at or proximal to 2q37.1. cleft palate was reported only in patients with the most proximal breakpoints (2q36 or 2q35). Neurological effects including developmental delay, mental retardation, autistic-like behavior, and hypotonia were typical in this patient population but did not stratify in severity according to breakpoint. Terminal deletion of the long arm of chromosome 2 should be considered in the infant with marked hypotonia, poor feeding, gastroesophageal reflux, and growth delay, and the older child with developmental delay, autistic behavior, and the characteristic facial and integumentary features described herein. Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling.- - - - - - - - - - ranking = 0.15539426650054keywords = physical (Clic here for more details about this article) |
5/10. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.BACKGROUND: Fryns syndrome (FS) is the commonest autosomal recessive syndrome in which congenital diaphragmatic hernia (CDH) is a cardinal feature. It has been estimated that 10% of patients with CDH have FS. The autosomal recessive inheritance in FS contrasts with the sporadic inheritance for the majority of patients with CDH and renders the correct diagnosis critical for accurate genetic counselling. The cause of FS is unknown. methods: We have used array comparative genomic hybridisation (array CGH) to screen patients who have CDH and additional phenotypic anomalies consistent with FS for cryptic chromosome aberrations. RESULTS: We present three probands who were previously diagnosed with FS who had submicroscopic chromosome deletions detected by array CGH after normal karyotyping with G-banded chromosome analysis. Two female infants were found to have microdeletions involving chromosome band 15q26.2 and one male had a deletion of chromosome band 8p23.1. CONCLUSIONS: We conclude that phenotypes similar to FS can be caused by submicroscopic chromosome deletions and that high resolution karyotyping, including array CGH if possible, should be performed prior to the diagnosis of FS to provide an accurate recurrence risk in patients with CDH and physical anomalies consistent with FS.- - - - - - - - - - ranking = 0.15539426650054keywords = physical (Clic here for more details about this article) |
6/10. A thrilling case of hiatus hernia.A 65 year old woman was found to have a left parasternal heave and a systolic murmur associated with a thrill. A chest radiograph, echocardiogram and gastrograffin swallow demonstrated a massive obstructed hiatus hernia which displaced the heart anteriorly. Aspiration of the contents of the hernia led to complete resolution of the physical signs. Possible mechanisms for their production are discussed.- - - - - - - - - - ranking = 0.15539426650054keywords = physical (Clic here for more details about this article) |
7/10. Familial congenital diaphragmatic hernia: prenatal diagnostic approach and analysis of twelve families.Congenital diaphragmatic hernia is generally recognized as a sporadic malformation with little or no risk of recurrence. A family with three affected individuals in two generations is presented. In addition, new prenatal diagnostic techniques including ultrasonography and amniography are discussed. A comparison of associated physical characteristics in isolated versus twelve familial cases of diaphragmatic hernia is presented. In the familial group, there was a higher incidence of affected males (M:F ratio = 2.1 versus 0.67), a higher incidence of bilateral defects (20% versus 3%) and a lower incidence of additional life-threatening malforamtions 3.6% versus 47%). Analysis of available pedigree data favors multifactorial inheritance with a high male: female sex ratio as the most probable mode of transmission.- - - - - - - - - - ranking = 0.15539426650054keywords = physical (Clic here for more details about this article) |
8/10. Congenital diaphragmatic hernia: implications for nitrous oxide use in dentistry.The development of diaphragmatic hernias, their associated physical and diagnostic signs and symptoms, and the potential complications with nitrous oxide use are presented with a case report. Depending upon the location and extent of the diaphragmatic defect, portions of the stomach, omentum, liver and/or intestine can occupy a portion of the thoracic cavity. nitrous oxide's solubility properties allow for rapid expansion of the herniated bowel, resulting in compression of the thoracic organs or strangulation of the herniated abdominal viscera. The presence of a diaphragmatic hernia may necessitate a change in sedation or anesthesia plans to eliminate the use of nitrous oxide during prolonged procedures.- - - - - - - - - - ranking = 0.15539426650054keywords = physical (Clic here for more details about this article) |
9/10. Congenital posterolateral diaphragmatic hernia past infancy.Twenty-seven cases of congenital posterolateral diaphragmatic hernia past infancy are reviewed in tabular form and discussed as to presenting symptoms, physical and radiographic findings, operative treatment, and final outcome. A ten year old male treated by us is presented as a detailed case report. A great contrast is noted between the acute respiratory symptoms which threaten life in the infant hernia compared with the more chronic and recurrent gastrointestinal and respiratory symptoms in pateints past infancy. Onset of symptoms did not correlate with age or sex. Chest x-ray films and gastrointestinal contrast studies were most helpful in diagnosis. Abdominal and thoracic approaches were equally effective in reducing the herniated viscera and closing the diaphragmatic defect. We believe that long-term survival of patients with congenital posterolateral diaphragmatic hernia may be due to persistence of a confining pleuroperitoneal sac. rupture of this sac in later life may coincide with onset of the characteristic symptoms which in turn prompt diagnostic studies. Congenital diaphragmatic hernia must be considered in the differential diagnosis of patients with both recurrent gastrointestinal and respiratory complaints. Plain radiographs of the chest and contrast studies of the gastrointestinal tract are necessary to confirm diagnosis preoperatively.- - - - - - - - - - ranking = 0.15539426650054keywords = physical (Clic here for more details about this article) |
10/10. Diaphragmatic hernia in the Coffin-Siris syndrome.At 32 weeks of gestation, delivery of a female fetus was induced because of severe malformations seen on ultrasonogram: congenital diaphragmatic hernia and cerebellar hypoplasia. The diagnosis of Coffin-Siris syndrome was based on the physical examination: coarse face with low-set ears, low nuchal hairline, scalp hypotrichosis and hypoplasia of the nails of fingers and toes with absence of the right fifth fingernail. autopsy confirmed the prenatally diagnosed major associated abnormalities: hypoplasia of the cerebellum and congenital diaphragmatic hernia. Various clinical entities are included in the differential diagnosis.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
| | Next -> |