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At least 1,441 records · Page 80Linked to original sources
PubMed1998

Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia. The present observations further suggest that these syndromes are the variable expression of a single autosomal recessive disorder.

Abnormalities, Multiple↗
PubMed2002

Coffin-Lowry syndrome: clinical and molecular features.

The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. Mild progression in facial coarsening occurs during childhood and adult life. The hands are broad with soft, stubby, tapering fingers. Other clinical findings include short stature (95%), a pectus deformity (80%), a kyphosis and/or scoliosis (80%), mitral valve dysfunction, and sensorineural hearing loss. The causal gene, RSK2, was identified in 1996 and contains 22 exons which encode a protein of 740 amino acids. Over 75 distinct pathogenic mutations have been identified in 250 unrelated CLS patients.

Abnormalities, Multiple↗
PubMedDate not supplied

Prenatal diagnosis of fetal herpes simplex infection.

BACKGROUND: Intrauterine infection with herpes simplex virus (HSV) has been associated with a significant number of neonatal HSV infections. When these infections begin in utero, the associated morbidity is more severe, and treatment regimens may be less effective. CASE: A 24-year-old nullipara with an abnormal triple screen and multiple ultrasound abnormalities at 19 weeks' gestation underwent amniocentesis and cordocentesis. Laboratory results were consistent with HSV infection. The patient elected to terminate the pregnancy, and on postmortem examination of the fetus, evidence of disseminated disease was present. CONCLUSION: We believe that this case documents a relationship between HSV infection and findings on ultrasound that have previously been described in association with other in utero infections. We suggest that general viral cultures of the amniotic fluid be done when in utero infection is suspected.

Adult↗
PubMed1977

Conjoined thoracopagus twins.

A case of vaginally delivered stillborn female thoracopagus conjoined twins is presented. Each twin had a cleft lip and cleft palate. They shared a common pericardial sac and a common abdominal cavity. The liver was conjoined, and the small bowel was common to both twins. One twin was asplenic. Although the twins were monozygotic, their viscera were neither identical nor mirror-image to each other, and the visceral anomalies were unique to each twin. The hearts were fused, and communications existed between the circulations at the atrial and ventricular levels. One twin had single atrium, solitary (right) ventricle, malposed great arteries, pulmonary valvular atresia and infundibular stenosis, right aortic arch with aberrant left subclavian artery and with left ductus arteriosus, and atresia of the common pulmonary vein. The other twin had two atrial septal defects of the fossa ovalis and sinus venosus types, partial anomalous pulmonary venous connection, persistent left superior vena cava to coronary sinus, solitary (left) ventricle, malposed great arteries, and left aortic arch with aberrant right subclavian artery and with left ductus arteriosus. There was atrial and ventricular fusion. On hypothetical grounds, and in a comparable anatomic situation, salvage of one twin might be possible by surgical means, while the other twin was sacrificed.

Abnormalities, Multiple↗
PubMed1996

Bifid epiglottis.

The true bifid epiglottis is a rare congenital anomaly typically discovered during the evaluation of stridor in an infant or newborn. While it is not classified as a specific syndrome, there are frequent associations of other congenital anomalies with the bifid epiglottis. These include midline defects (such as microphallus, hypospadius, imperforate anus, and midline laryngeal cleft), endocrine disorders (including congenital hypopituitarism), and central nervous system neoplasms, including hypothalamic hamartoblastoma. The embryogenesis and options for surgical management of this anomaly are reviewed, and one case is presented in detail.

Abnormalities, Multiple↗
PubMed1994

High reported prevalence of congenital anomalies in a Scottish city.

The Glasgow Register of Congenital Anomalies reports the highest birth prevalence of congenital anomalies of all 18 participating centers in the EUROCAT project for the years 1980 to 1988. A high prevalence is found in most defect categories, with Glasgow in the top three places in the EUROCAT "league" in 7 of the 10 categories studied. While the high rate could reflect a high level of ascertainment, we have concluded that there is enough reason to be seriously concerned that the high Glasgow rate is a reflection of risk rather than methodology.

Abnormalities, Multiple↗
PubMed2006

Surgical outcome of heterotaxy syndrome in a single institution.

Heterotaxy syndrome encompasses a wide range of anatomical variants including poor pulmonary vascular development. Surgical outcome remains poor in this difficult subgroup. Between April 1996 and November 2004, 27 patients with visceral heterotaxy were enrolled in this study. The median age at presentation was 25 days. There were 11 patients with asplenia and 16 with polysplenia. There were 5 deaths (4 in patients with asplenia, 1 in a patient with polysplenia). All patients with asplenia were scheduled for single-ventricle repair, and 5 completed a modified Fontan procedure. Of the 16 patients with polysplenia, 8 completed 2-ventricle repair and 6 had a modified Fontan. In polysplenia, actuarial survival was 93.8% at 4 months, and remained constant thereafter. In asplenia, survival was 81.8% at 1 month, and 53.0% at 1 year. A significant correlation was found between nonconfluent pulmonary arteries and mortality. The medium-term result in polysplenia was satisfactory, but not in asplenia. Nonconfluent pulmonary arteries carry a high risk of mortality, and a strategy to create pulmonary vascular confluence and satisfactory pulmonary blood flow is mandatory.

Abnormalities, Multiple↗
PubMed2001

Pattern of cardiovascular anomalies associated with esophageal atresia: support for a caudal pharyngeal arch neurocristopathy.

Patients with cephalic neurocristopathy (an abnormality of neural crest differentiation) present a striking pattern of associated cardiovascular anomalies (CVA). Therefore, to support the hypothesis that esophageal atresia (EA) may be related to a defective contribution from the cephalic neural crest, we studied the pattern of CVA associated with EA. Medical records of 99 patients with isolated EA, 101 with isolated anorectal malformations (ARM) and 15 with both EA and ARM, consecutively admitted to our unit, were reviewed. The prevalence and pattern of CVA associated with isolated EA or isolated ARM were compared on the assumption that the cranial or caudal location of a major malformation is related to a different regional patterning of associated anomalies. The prevalence of CVA was 39% in patients with isolated EA and 7% in those with isolated ARM (p < 0.01). Neural crest-related CVA (aortic arch anomalies, conotruncal defects, and superior vena cava malformations) accounted for 72% of all CVA in patients with isolated EA versus 14% in those with isolated ARM (p < 0.02). In patients with isolated EA, anomalies of the fourth and sixth aortic arch derivatives accounted for 75% of all neural crest related CVA. The present pattern of CVA in infants with EA supports the concept that EA may be related to an abnormal contribution from caudal portion of cephalic neural crest.

Abnormalities, Multiple↗