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)

Two unrelated children, not affected with Down's syndrome, with strikingly similar phenotypes and an extra G-like chromosome are presented. Quinacrine and trypsin-Giemsa banding identified the extra chromosome as No. 22. The phenotype of these patients and the review of 15 additional similar cases from the literature permit a definition of the cardinal features of trisomy 22; mental and growth retardation, microcephaly and craniofacial asymmetry, strabismus, beaked and prominent nose, long philtrum, cleft palate, micrognathia, large low set ears with preauricular tags and/or pits, long slender fingers, congenital heart disease, inguinal hernia, and hip dislocation.
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PMID:Trisomy 22. Two new cases and delineation of the phenotype. 4 27

A girl had cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet, and abnormal dermal patterns at birth. She was born after a pregnancy complicated by exposure to multiple medications. This combination of malformations may represent a distinct entity unrelated to the medication or may be a complication of the intrauterine drug exposure.
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PMID:Congenital malformations. Cleft palate, congenital heart disease, absent tibiae, and polydactyly. 16 64

This report describes an infant with fatal congenital heart disease, cleft palate, brain malformations, and trisomy 8p resultant from the paternal balanced reciprocal translocation, rcp(8;15) (p11;p11). Review of six previously reported trisomy 8p patients (resultant from parental balanced translocation in each instance) revealed severe mental retardation in five, short stature in all, and a variety of brain, skeletal, and cardiac defects. The features of the seven trisomy 8p patients reviewed here are not sufficiently similar to suggest a distinct dysmorphic syndrome. In addition the features differ from those in the trisomy 8 mosaicism syndrome, in which the mental retardation and malformations are generally less severe.
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PMID:Report of a trisomy 8p infant with carrier father. 31 58

There is an increased risk of congenital heart disease and cleft palate among the offspring of women with epilepsy, most of whom are on anticonvulsants. Part of this increase may be caused by phenytoin. The risk of all abnormalities in these infants appears to be about 4% to 5%, which is approximately double the rate of malformations in the general population. There appears to be an ill-defined "syndrome" associated with fetal exposure to hydantoin, although it has not been proven to be caused by the drug. The risk of this "syndrome" is of unknown magnitude, but it is probably less than 10%. The significance to a given child of the abnormalities in this "syndrome" is not predictable at this time.
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PMID:American Academy of Pediatrics Committee on Drugs: anticonvulsants and pregnancy. 44 Aug 24

Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case of trisomy 14 mosaicism is reported. Comparisons are made with other trisomy 14, trisomy 14 mosaicism, and duplication 14q cases previously reported. As a group, they share some clinical manifestations. The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation. The present patient also has asthma, eczema, and developmental asymmetry.
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PMID:Trisomy 14 mosaicism: case report and review. 47 33

A newborn boy presented with an acrocephaly characterized by a coronal craniosynostoses, open sagittal sutures and abnormally high and straight forehead. He was the only child of young, unrelated, healthy parents; there was no familial history of dysmorphy. Facial asymmetry was important and associated with posterior cleft palate, syndactylia of the tips and polydactylia of feet, due to a splitting of the first metatarsus. The child also had a congenital heart disease, like in half of the 15 published cases. In older children, mental retardation is usually observed, often associated with obesity and hypogonadism. Polydactylia permitted to exclude Apert's acrocephalosyndactylia in which there is a normal number of finger arms and which seems to be a dominant mutation, while the transmission of Carpenter's syndrome appears autosomal recessive, thus requiring restrictive genetic counselling.
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PMID:[Carpenter's syndrome]. 60 89

To determine the course of parental reactions to the birth of a child with a congenital malformation and the process of parental attachment, the parents of 20 children with a wide range of malformations including mongolism, congenital heart disease, and cleft palate were interviewed. Structured interviews took place 7 days to 60 months after birth. Despite the wide variation of malformations, analysis of the interviews demonstrated five stages of parental reactions--shock, denial, sadness and anger, adaptation, and reorganization--in dealing with a congenitally malformed child during the course of his development and care. Observations of these patients suggest that early crisis counseling in the first months of life may be particularly crucial in parental attachment and adjustment.
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PMID:The adaptation of parents to the birth of an infant with a congenital malformation: a hypothetical model. 119 28

Our preliminary experience with dual-chamber DDD pacemakers is reported. Technological innovations of the device, atrio-ventricular electrode stability and sequential stimulation have contributed to improve the conditions of patients previously submitted to VVI pacemaker implantation. Primary indications for DDD pacemaker implantation in our series included 7 patients with complete atrio-ventricular (A-V) block, 3 with Mobitz type II second-degree A-V block and 2 with sick sinus syndrome. In six of the 12 patients (50%) additional indications included: ventricular tachycardia in 4 patients, atrial fibrillation in one and pacemaker syndrome in one. Other cardiac conditions were diagnosed: dilated cardiomyopathy in 3 patients, ischemic heart disease in 2 patients, valvular heart disease in 2 patients, congenital heart disease in 1 patient and hypertrophic cardiomyopathy in one patient. The implanted pacemakers were: 5 Genesis, 4 Ultra CPI and 3 Versatrax. J-shaped atrial electrodes were used in 8 patients and in 4 instances a screw-in electrode was employed. Improvement of hemodynamic function was achieved by frequent follow up and reprogramming of DDD pacemaker in every patient. While 4 patients died with progressive deterioration of cardiac function, eight patients survived with adequate sequential stimulation. We conclude that DDD pacemakers are reliable and afford symptomatic relief in a broad spectrum of patients.
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PMID:[DDD dual chamber pacemakers. Initial experience]. 134 19

A case of trisomy 22 liveborn female baby with multiple congenital anomalies is described. Physical manifestations included failure to thrive, hypotonia, pre-auricular sinus, low set ears, hypertelorism, posterior low hair line, micrognathia, cleft palate, congenital heart disease, imperforated anus with anovulvar fistula, contracted pelvis and bilateral rocker-bottom feet. The infant died at two months of age. Cases of trisomy 22 usually present with many severe malformations, and they rarely survive to term. A review of the literature is presented to delineate this chromosome disorder.
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PMID:Liveborn trisomy 22: report of one case. 151 17

We have attempted to elucidate, first through an examination of the basic science of clefting and then through a description of the roles of the various members of the cleft palate team, an understanding of the multiplicity of problems faced by this heterogeneous group of children with cleft lip or palate. With an incidence of cleft of 1 in 700 births, all practicing pediatricians will at some time be faced with a patient with a cleft. Pediatric management begins in the hospital nursery by ruling out possible associated anomalies (e.g., congenital heart disease or urinary tract) or syndromes. At the same time, cleft palate nursers may be needed to overcome feeding problems. Simultaneously, counseling for the family begins with a positive attitude toward outcome and an initial explanation of the schedule of corrective procedures, i.e., lip repair at 3 months of age and palate repair at about 1 year. The counseling should incorporate an understanding of the cause of clefting, both its genetics and teratogenetics, and then proceed to noting the actual recurrence risks of 1% for a new cleft and 16% if there is a positive family history in a first-degree relative. The recurrence risks in recognized syndromes may follow mendelian patterns. Later, the pediatrician can help the family deal with multiple ear infections and the likely need for tympanostomy tubes, anticipating the need for tubes in a way that might facilitate placement at the time of anesthesia for the lip or the palate repairs. An understanding of the speech and language difficulties that may be encountered in later infancy may relieve parental anxiety. Later, after palate repair, knowledge of velopharyngeal incompetence may avert premature hypernasal speech problems caused by adenoidectomy, which should be avoided if at all possible. The pediatrician needs to be aware of the tooth malformations that accompany clefting of the alveolus as well as the increased susceptibility to caries, so that the family may be directed to early intervention by the pediatric dentist. With support by pediatrics of the efforts of pediatric dentistry, the child is then in optimal condition for orthodontics. Continually keeping the child's emotional adjustment in mind, the pediatrician can encourage the child and family, knowing that with palatal expansion techniques plus possible bone graft surgery to the cleft alveolus at about 9 years of age, the child may be orthodontically corrected to very near normal.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Managing the cleft lip and palate patient. 188 39


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