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At least 199 records · Page 11Linked to original sources
PubMed1971

Congenital hair defects.

Congenital hair defects are not just medical curiosities. Congenital hair defects and associated disease entities may represent different manifestations of a basic underlying metabolic defect. Abnormal hair should serve as a clue to other associated abnormalities particularly abnormal amino acid metabolism, neurosensory hearing loss, dental enamel hypoplasia and mental and physical retardation. With application of modern technics to the study of hair, new data have been obtained on the physical and biochemical properties of human hair.

Adolescent↗
PubMedDate not supplied

Neonatal intestinal perforation caused by congenital defect of the small intestinal musculature: report of one case.

Congenital defect of the small intestinal musculature is a rare cause of neonatal spontaneous intestinal obstruction or perforation. Its etiology and pathogenesis are still controversial. A male infant presented with intestinal obstruction at two days of age and rapidly progressed to perforation and septic shock. He died at seven days of age. Autopsy finding revealed a perforation hole at twenty-five cm proximal to ileocecal valve. Histology examination demonstrates multifocal deficiency of the inner circular muscle layer three cm around the perforation site. The clinical and histological characteristics are reviewed and discussed. We propose that the muscle defect of small intestine, especially ileum, is secondary to ischemic injury rather than an embryological malformation.

Diseases in Twins↗
PubMed1977

[Correcture of congenital defects of the wing and the tip of the nose (author's transl)].

Congenital hypoplasia of the nasal wing can appear as a defect (congenital notch) or as a flattening and deficiency of the cartilagineous support. The combination with other deformities is seen frequently, 2 own cases: 1. Congenital notch of the left ala nasi. Operation: forming a window in the wing by incision, implantation of a composite graft from the ear, undisturbed and complete healing. 2. Hypoplasia of both cartilages of the ala nasi, flatness and dropping of the nasal tip, combined with deformities in both middle ears. Operation: Lifting the nasal tip, median suture between the cartilages of the wing in the tip, implantation of some septal cartilage in the latter to fill up the flatness. Both cases showed also after one year a good result.

Adolescent↗
PubMedDate not supplied

[Classification of congenital defects of larynx].

A classification of congenital malformations of the larynx was developed on the basis of 61 observations. All the malformations were subdivided into organ (20 cases) and tissue (41 cases) defects. Organ congenital malformations of the larynx included: dysgenesis of the cartilage stroma, dystopia, and vascular lesions. Tissue congenital malformations of the larynx included: dysplasia, hypoplasia, and dyschronia. The most severe form of organ malformations was dysgenesis of the cricoid cartilage that required surgical intervention in all cases. The most frequent form of tissue malformations was dysplasia (24 cases) of connective, cystic (polypous), or mixed type. Every form of congenital malformations of the larynx are described, and their specific features and prognosis are discussed.

Humans↗
PubMed2004

[The natural history of congenital defects and deformities of the spine (I)].

The functional assessment of individuals with congenital defects of the spine requires a differentiated judgement. A lumbalisation or sacralisation of the lumbosacral junction does not seem to be associated with increased lower back pain. However, it remains unclear whether this is the case in individuals with a spina bifida occulta. Defects of segmentation or formation alter the biomechanical loading of the spine, especially in cases of a secondary spinal deformity the functional status can be substantially impaired. Spinal deformities include idiopathic scoliosis, Scheuermanns kyphosis and spondylolisthesis. Depending on the severity of the deformity, they can affect the functional status and may be associated with increased lower back pain.

Adult↗
PubMed1993

[Two cases of congenital defects within the transverse processes of the lumbar spine].

Two cases of congenital defects of transverse processes of lumbar spine causing lumbalgia are described. The first one was produced by direct contact of the elongated processes with subsequent pseudoarthrosis. Hypertrophied processes caused stenosis around intervertebral foramen and irritated posterior neural branch in the second case. Surgical resection of the hypertrophied transverse processes has brought the cure.

Adolescent↗
PubMed1997

Frequency of spontaneous congenital defects in rhesus and cynomolgus macaques.

This paper summarizes the spontaneous incidence of congenital defects in the rhesus and cynomolgus macaque colonies (Macaca mulatta and M. fascicularis) at the California Regional Primate Research Center. The computerized database used in this analysis included fetuses, term infants, juveniles, and adults that underwent a necropsy procedure over a 14-year period (1983-1996). The calculated malformation rates were 0.9% (40/4,390) and 0.3% (3/965) for the rhesus and cynomolgus monkey, respectively. Most of the observed malformations in both species affected the musculoskeletal and the cardiovascular systems, while a smaller number of defects were observed in the gastrointestinal, urogenital, endocrine, and central nervous systems. Inbreeding did not contribute to the spontaneous malformation incidence and there was no predilection for sex (male vs. female) or housing (indoors vs. outdoors) among the malformed cases. This spontaneous malformation database in our macaque colony aids in the interpretation of defects that occur in an experimental study as well as in the ongoing assessment of a healthy nonhuman primate breeding colony.

Animals↗
PubMed2004

Risk of drug-induced congenital defects.

Defects attributable to drug therapy represent about 1% of congenital defects of known aetiology. This means that a precautionary attitude and correct use of drugs in fertile, and especially pregnant, women is a feasible form of prevention. Drugs currently in use with proven teratogenic effect number approximately 25, but new pharmaceutical drugs are constantly in preparation. Recognition of a drug-induced teratogenic effect is a complex procedure taking into account not only experimental animal data but also experience in humans. Considering that 40% of pregnancies are not planned, it follows that any drug with known or suspected teratogenic potential must be used only under strict medical control. Also, adequate knowledge on potential teratogenicity of a drug permits modification of therapy before conception. It goes without saying that any drug should be used during pregnancy only if it is essential, and it would be prudent to use only those where adequate information is provided and prior clinical experience is available. Teratology Information Services can assist both physicians and patients when any doubt exists.

Abnormalities, Drug-Induced↗
PubMed2003

The Metropolitan Atlanta Congenital Defects Program: 35 years of birth defects surveillance at the Centers for Disease Control and Prevention.

BACKGROUND: The Metropolitan Atlanta Congenital Defects Program (MACDP) is a population-based birth defects surveillance program administered by the Centers for Disease Control and Prevention (CDC) that has been collecting, analyzing, and interpreting birth defects surveillance data since 1967. This paper presents an overview of MACDP current methods and accomplishments over the past 35 years. METHODS: MACDP actively monitors major birth defects among infants born to residents of five counties of metropolitan Atlanta, an area with approximately 50,000 annual births. Cases are ascertained from multiple sources, coded using a modified British Pediatric Association six-digit code, and reviewed and classified by clinical geneticists. RESULTS: MACDP has monitored trends in birth defects rates and has served as a case registry for descriptive, risk factor, and prognostic studies of birth defects, including studies of Agent Orange exposure among Vietnam War veterans, maternal use of multivitamins, diabetes, febrile illnesses, and survival of children with neural tube defects. MACDP has served as a data source for one of the centers participating in the National Birth Defects Prevention Study, and for developing and evaluating neural tube defects prevention strategies related to the periconceptional use of folic acid supplements. CONCLUSIONS: Since its inception, MACDP has served as a resource for the development of uniform methods and approaches to birth defect surveillance across the United States and in many other countries, monitoring birth defects rates, and as a case registry for various descriptive, etiologic, and survival studies of birth defects. MACDP has also served as a training ground for a large number of professionals active in birth defects epidemiology.

2,4,5-Trichlorophenoxyacetic Acid↗
PubMed1993

Congenital defects of the bovine musculoskeletal system and joints.

A variety of structural and functional congenital defects affecting the central nervous system of cattle have been identified. This article discusses specific defects of the central nervous system. Spastic and paralytic, metabolic, and storage diseases are reviewed.

Animals↗
PubMed1995

Platelet aggregation at high shear is impaired in patients with congenital defects of platelet secretion and is corrected by DDAVP: correlation with the bleeding time.

Techniques measuring platelet aggregation in vitro under the high shear rate conditions that can be found in the microcirculation could reflect the status of primary hemostasis better than the turbidimetric technique. We studied platelet aggregation at high shear in patients with prolonged bleeding time caused by congenital platelet secretion defects such as delta-storage pool deficiency and primary secretion defect. Two different techniques were used: shear-induced platelet aggregation in a cone-and-plate viscometer and the filter aggregation test. With both techniques, platelet aggregation at high shear rate was defective in 14 patients with delta-storage pool deficiency and in 8 with primary secretion defect. There was a statistically significant correlation between platelet aggregation at high shear rate and the bleeding time. In patients with delta-storage pool deficiency, platelet aggregation at high shear rate and the bleeding time were significantly correlated with the platelet serotonin content. The intravenous infusion of 1-deamino-8-D-arginine vasopressin (DDAVP) (0.3 micrograms/kg) increased the plasma concentration of von Willebrand factor (vWf), shortened the bleeding time, and potentiated platelet aggregation at high shear rate in all patients. Because platelet aggregation at high shear rate requires vWf, the effect of DDAVP is probably due to the induced increase in plasma vWf. Therefore, platelet aggregation at high shear rate is defective in patients with congenital defects of platelet secretion and is potentiated by DDAVP. Potentiation of platelet aggregation at high shear rate may be one mechanism by which DDAVP shortens the prolonged bleeding time of patients with congenital defects of platelet secretion.

Bleeding Time↗
PubMed1981

Congenital defects of the abdominal wall. A review of the experience in New Mexico.

Omphalocele, umbilical cord hernia, and gastroschisis are surgically correctable defects of the abdominal wall. Each of these defects has a distinct embryologic basis that results in a characteristic clinical picture. Twenty-five infants with congenital defects of the abdominal wall were treated at the University of New Mexico Hospital in the past four years. Six infants had omphalocele, one had umbilical cord hernia, and 18 had gastroschisis. Survival among infants who underwent a corrective operation was as follows: omphalocele, 50%; umbilical cord hernia, 100%; and gastroschisis, 82%. Long-term survival for the entire group was 72% (18/25). Gastroschisis, which had a lower incidence of major associated anomalies, had a better prognosis than omphalocele. The mortality of congenital abdominal wall defects was related to presence of severe associated anomalies and to poor clinical condition on admission. Prompt and informed initial care may increase the chance of survival.

Abdominal Muscles↗
PubMed2004

Congenital defects of the ruminant nervous system.

Abnormalities of the nervous system are common occurrences among congenital defects and have been reported in most ruminant species. From a clinical standpoint, the signs of such defects create difficulty in arriving at an antemortem etiology through historical and physical examination alone. By first localizing clinical signs to their point of origin in the nervous system, however, a narrower differential list can be generated so that the clinician can pursue a definitive diagnosis. This article categorizes defects of the ruminant nervous system by location of salient clinical signs into dysfunction of one of more of the following regions: cerebrum, cerebellum,and spinal cord. A brief review of some of the more recognized etiologies of these defects is also provided. It is important to make every attempt to determine the cause of nervous system defects because of the impact that an inherited condition would have on a breeding program and for prevention of defects caused by infectious or toxic teratogen exposure.

Abnormalities, Multiple↗
PubMedDate not supplied

[Diagnosis and treatment of congenital defects and abnormalities of the nasal cavity in children and adults].

In 300 patients with congenital defects and abnormalities of the nasal cavity development, physiological functions of the nose were investigated, using advanced methods, e. g. rhinofibroscopy, microrhinoscopy, rhinopneumometry, olfactometry, thermometry of the nasal mucosa, and pH measurement of the nasal mucus. Disorders in respiratory, olfactory, and protective functions were revealed. This led to surgical intervention in more than 300 cases. Original methods and modified procedures were developed as applied to specific pathologies. Physiological measurements before and after surgery demonstrated that correction of development defects and abnormalities of the nasal cavity contributed to the recovery of nose functions.

Adult↗
PubMed1999

Analysis of deformations in 26,810 consecutive infants with congenital defects.

Here we present the analysis of deformations observed in a series of 26,810 consecutive infants with congenital defects. We observed that 3.88% of these infants had deformations, for a prevalence figure of 0.07% live-born infants. From the present study we can conclude that there are three different types of deformation sequences: one with polyhydramnios, thin skin without dermal ridges, hypotonia, and multiple deformations (hypokinesia sequence), which is most often due to intrinsic problems; another with oligohydramnios, redundant thick skin, and multiple deformations, which can be produced by intrinsic or extrinsic factors; and the third, with normal amniotic fluid volume, which is due to compression of different causes. Deformations of extrinsic cause are more frequently isolated defects and have a better prognosis, while deformations of intrinsic origin are more frequently associated with other congenital anomalies and, generally, have a poor prognosis.

Congenital Abnormalities↗
PubMed1982

Sauna and congenital defects.

To test a recent hypothesis on the causal relationship between sauna-induced hyperthermia and congenital defects, 100 consecutive cases of defects of the central nervous system and 202 cases of orofacial clefts were singled out from the Finnish Registry of Malformations. The mothers and their time-area-matched referents were interviewed for their sauna habits. Almost every pregnant mother (98.5%) had visited the sauna regularly, and yet, the incidence of the CNS defects in Finland is among the lowest ever reported. No differences in the sauna habits were observed between the case and referent mothers. It is concluded that the relatively mild, temporal hyperthermia caused by the sauna should not be considered hazardous for the developing embryo.

Body Temperature↗