Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The nature and severity of congenital heart disease in 78 patients who presented with clefts of the lip and/or palate is reported. The prevalence of bilateral cleft lip and palate in patients with heart lesions was much higher than in cleft patients with normal hearts. Cardiac defects were predominantly conotruncal. Tetralogy of Fallot was present in 24 percent of patients; the prevalence of transposition, atrioventricular septal defect, and truncus arteriosus was also disproportionately high. Patients with conotruncal defects had a greater prevalence of either unilateral or bilateral cleft lip and palate. Most patients with congenital heart disease and clefting had additional abnormalities. Anomalies of other systems were found to be present in 87 percent of patients.
Cleft Palate J 1990 Jul
PMID:Congenital heart anomalies in patients with clefts of the lip and/or palate. 237 74

Karyotype 47,XY,+22 was found in a newborn infant with primitive and low-set ears, bilateral preauricular pit, broad nasal bridge, antimongoloid palpebral fissures, macroglossia, enlarged sublingual glands, cleft palate, micrognathia, clinodactyly of the fifth fingers, hypoplastic finger nails, hypoplastic genitalia, short lower limbs, bilateral sandal gap and deep plantar furrows. The child developed signs of congenital heart disease and died at the age of 10 weeks. Non-disjunction studies showed maternal origin (meiosis I) of the extrachromosome.
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PMID:Full trisomy 22 in a newborn infant. 296 Feb 61

There are numerous genetic diseases influencing reproduction and periparturient care in dogs including such disorders as anasarca, cleft palate, swimmers, congenital heart disease, and the various conditions that cause excessive bleeding. It is probable that all breeds of dogs are at risk for these or other traits that influence whelping and neonatal care. Therefore, genetic counseling should be considered as an important aspect of prenatal and pediatric veterinary medicine.
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PMID:Genetic disorders affecting reproduction and periparturient care. 348 60

Velo-cardio-facial syndrome is a common genetic syndrome of cleft palate, learning disability, heart disease, and abnormal facial appearance. Ocular findings include retinal vascular tortuosity, posterior embryotoxon, narrow palpebral fissures, suborbital discoloration, small optic nerves, iris nodules, and cataracts. Retinal vascular tortuosity was found to be associated intrinsically with the syndrome and not secondary to the heart disease. The ocular and systemic findings suggest a primary developmental anomaly of neural crest derivatives in the pathogenesis of the syndrome.
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PMID:Ocular findings in the velo-cardio-facial syndrome. 368 16

A case is reported of a term newborn with intra uterine growth retardation and numerous malformations such as complex heart disease, abnormalities of distal limbs, cleft palate. Death occurred after two days. The diagnosis of rubella embryopathy was confirmed by the following criteria: a high level of rubella antibodies in mother and newborn (1/1000) an isolation of rubella virus from the infant's urine. Diagnosis of rubella after reinfection was documented by a high level of antibodies in the mother three years before this pregnancy. Other observations reported in literature confirm the extreme rarity of congenital rubella after reinfection.
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PMID:[Reinfection after rubella and congenital polymalformation syndrome]. 376 Aug 33

Cat's eye syndrome is a very rare disease with many congenital anomalies. Until the end of 1983, 35 cases had been reported, but only 5 cases were associated with cleft palate, and only 1 patient was operated on. A 4-year-old male child had coloboma of the iridochoroid, cleft soft palate, hypertelorism with an antimongoloid slant of the eyes, epicanthal folds, hearing deficit, congenital heart disease (pulmonary arteriovenous fistula), mental and growth retardation, and a 47,XY + marker chromosome. The patient did not have anal atresia, preauricular skin tags, microphthalmia, depressed nasal bridge, or renal or skeletal anomalies. The operation was performed on his cleft soft palate when he was 2.5 years old.
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PMID:Cat's eye syndrome with cleft soft palate. 385 14

A two-year-old female with the Pierre Robin anomaly and bilateral index finger malformations is described. Hypertelorism, full cheeks, posteriorly rotated ears with prominent antihelix, short neck, simian creases, bilateral fifth finger clinodactyly, and short toes with hypoplastic small nails were also present. Her mother had a subsequent pregnancy that resulted in the delivery at 26 weeks, of a stillborn female fetus with cleft palate, index finger anomalies and congenital heart disease. These two patients are the first females reported with this group of anomalies. The etiology of this combination of malformations, the Catel-Manzke syndrome, is unknown.
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PMID:Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome. 395 70

The Pierre Robin syndrome consists of micrognathia, pseudo-macroglossia, glossoptosis and a high arched or cleft palate. Difficult intubation of the trachea and associated abnormalities such as congenital heart disease are well known complications of this syndrome. Intraoral surgery (such as cleft palate repair and palatoplasty) can also be technically difficult for the surgeon resulting in prolonged retraction on the tongue with a mouth gag to provide adequate surgical exposure. We report a case where massive lingual oedema following a cleft palate repair resulted in life-threatening airway obstruction.
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PMID:Airway obstruction due to massive lingual oedema following cleft palate surgery. 400 77

We report 21 patients with choanal atresia or ocular coloboma or both who have certain other associated anomalies, including congenital heart disease, postnatal growth deficiency, mental retardation and/or CNS anomalies, microphallus and cryptorchidism, and ear anomalies and/or deafness. Facial palsy, micrognathia, cleft palate, and swallowing difficulties were also common. It has not been possible to define a single etiology or a syndrome in these patients. We propose the mnemonic CHARGE (C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth and retarded development and/or CNS anomalies, G-genital hypoplasia, and E-ear anomalies and/or deafness) to describe the features of this association.
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PMID:Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. 616 37

Two infants with prominent frontal bossing, hydrocephalus, microphthalmia, and small, malformed, low-set, undifferentiated ears were born to mothers who had taken isotretinoin in the first trimester of pregnancy. A Dandy-Walker malformation, microcephaly, hypertelorism, small ear canals, cleft palate, small mouth, and congenital heart disease were also observed. Isotretinoin is a potent teratogen in man; maternal ingestion early in pregnancy leads to a distinct clinical pattern of anomalies.
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PMID:The isotretinoin teratogen syndrome. 658 31


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