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Topic: Diaphragmatic hernia upper limb defects

	BD Glossary (Site not responding. Last check: 2007-11-02)
		Hypospadias A congenital defect in which the urinary meatus (urinary outlet) is on the underside of the penis or on the perineum (area between the genitals and the anus).
		Reduction defects of the lower limbs The congenital absence of a portion of the lower limb.
		Reduction defects of the upper limbs The congenital absence of a portion of the upper limb.
	www.dshs.state.tx.us /birthdefects/glossary.shtm (2294 words)

	Congenital Diaphragmatic Hernia Details, Fetal Care Center of Cincinnati (Site not responding. Last check: 2007-11-02)
		Congenital Diaphragmatic Hernia / CDH is a defect in the diaphragm of the fetus.
		The incidence of Congenital Diaphragmatic Hernia is estimated at approximately one in 2,500 to 5,000 live births and as frequently as one in 2,200 prenatal ultrasound studies.
		Congenital diaphragmatic hernia as a cause of perinatal mortality.
	www.fetalcarecenter.org /medicine/therapies/cdh/cdh-details.htm (4159 words)

	eMedicine - Abdominal Hernias : Article by Eustace S Golladay, MD
		An indirect inguinal hernia is a congenital hernia regardless of the patient's age, and it occurs because of protrusion of an abdominal viscus into the open processus vaginalis.
		The retrovascular hernia sac descends in the posterior sheath of the femoral vein.
		The hernia sac is ligated distal to the fallopian tube and divided.
	www.emedicine.com /MED/topic2703.htm (10905 words)

	Defects definition (Site not responding. Last check: 2007-11-02)
		Spina bifida: a family of congenital malformation defects in the closure of the spinal column characterized by herniation or exposure of the spinal cord and/or meninges through an incompletely closed spine.
		Limb reduction defects: a congenital malformation characterized by total or partial absence or severe hypoplasia of skeletal structures of the limbs.
		Diaphragmatic hernia: a congenital malformation characterized by herniation into thehorax of abdominal contents through a defect of the diaphragm.
	www.icbd.org /definition.htm (1112 words)

	Glossary of Selected Birth Defects Terms
		Diaphragmatic hernia: Congenital defect of the muscular diaphragm resulting in herniation of the abdominal contents into the chest.
		Spina bifida: Neural tube defect with protrusion of the spinal cord and/or meninges.
		Stenosis: Narrowing or constriction of the diameter of a bodily passage or orifice.
	mass.gov /dph/fch/birthdefects/glossary.htm (1437 words)

	Perinatal Statistics: Descriptions of Leading Categories of Birth Defects
		The economic costs of medical conditions, such as birth defects are often discussed without a full understanding of how these conditions affect the lives of the infants born with them and the impact on their families and communities.
		Cerebral palsy and the birth defects included in the cost analysis were selected on the basis of their clinical significance and their broad representation of organ systems.
		Diaphragmatic hernia: Protrusion of intestine and often other abdominal organs through a gap in the diaphragm and into the chest, where they may cramp lung development during fetal life.
	www.marchofdimes.com /aboutus/680_2168.asp (783 words)

	USDSM Birth Defects Genetics Center Home Page
		It is important to recognize that the vast majority of neural tube defects, 90 to 95 percent, occur in families with a negative family history.
		These are commonly transverse limb defects, missing fingers/toes or missing hand/foot perpendicular to the extremity.
		The limb body wall complex with severe positional disorganization of the trunk relative to the limbs, associated with anterior wall defects and internal organ herniation can be verified by a very short or non-identifiable umbilical cord or by close apposition of the fetus to the uterine wall.
	www.usd.edu /med/som/genetics/antenatalscreening.htm (6705 words)

	[No title]
		We present the prenatal diagnosis of a 22-week-gestation fetus with unilateral pulmonary agenesis, diaphragmatic hernia, microphthalmia, pulmonary vessel agenesis, and intrauterine growth retardation.
		Exomphalos is a defect in the ventral abdominal wall with herniation of the abdominal viscera through a widened umbilical ring covered by a sac consisting of amnion and lined by peritoneum.
		By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at =0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.
	genetics.rusmedserv.com /add/article_23.html (16406 words)

	Infant Deaths to Children with Reported Birth Defects by Diagnostic Group
		Frequencies include all deaths within the first year of life to children reported with a birth defect who were born in Michigan and whose mother was a resident at the time of birth.
		Very low birth defects frequencies and significant shifts in the number of reported cases can be expected for counties where such problems exist.
		The effect of this lack of a resident information exchange is that birth defects cases are unreported whenever a Michigan child is diagnosed with or treated for a birth defect in a facility that is not within Michigan.
	www.mdch.state.mi.us /PHA/OSR/BirthDefects/infdxcausebrk.asp (627 words)

	iknowledgenow.com (Site not responding. Last check: 2007-11-02)
		A diaphragmatic hernia is a protrusion of the abdominal viscera through the diaphragm; it may be congenital or acquired.
		Diaphragmatic hernias are an occasional cause of abdominal crisis in the horse and may present as a strangulation obstruction.
		Objective of this presentation is to understand the technique for repair of perineal hernias using an internal obturator muscle flap, to understand the use of cyclosporine in the treatment of perineal fistulas and to understand the behavior and treatment of the common perineal tumors.
	www.iknowledgenow.com /search.cfm?keywordlist=Hernia (5306 words)

	Monitor December 2004 (Site not responding. Last check: 2007-11-02)
		As one of the original centers in the National Birth Defects Prevention Study (NBDPS), we in Texas are proud to be a part of this enormous effort to identify and prevent the complex causes of birth defects.
		Part of the mission of the Texas Birth Defects Epidemiology and Surveillance Branch is to investigate concerns of elevated birth defect occurrence throughout the State.
		We chose to examine several birth defects that are considered to be readily diagnosed at the time of delivery: anencephaly, spina bifida / meningocele, omphalocele, gastroschisis, cleft palate alone, and cleft lip with or without cleft palate.
	www.dshs.state.tx.us /birthdefects/monitor/vol10-2.shtm (3778 words)

	Diaphragmatic defect - limb deficiency - skull defect
		Diaphragmatic defect - limb deficiency - skull defect
		This syndrome was observed in 4 successive foetuses (2 females and 2 males) from a non-consanguineous couple.
		The spectrum of malformations is wide and includes diaphragmatic defects, hypoplastic lungs, omphalocele, severe limb deficiencies, syndactyly of toes, and ossification defect of the skull.
	www.orpha.net /static/GB/diaphragmatic_defect__limb_deficiency__skull_defect.html (92 words)

	TheFetus.net - Umbilical cord, short umbilical cord syndrome -Luc De Catte, MD, Tony Waterschoot, MS, Carine Mares, MS, ...
		A huge abdominal wall defect, extending from the distal part of the sternum to the suprapubic region, caused the evisceration of the fetal liver, stomach and intestines (fig.
		The pathological examination confirms the large abdominal wall defect, the close relationship of the fetus to the placenta, the kyphoscoliosis of the spine and the abnormal position of the legs.
		The body stalk malformation results from a defect in the germ disc, leading to an abnormal body folding, an abnormal amniotic cavity formation and a failure to obliterate the extraembryonic coelom.
	www.thefetus.net /page.php?id=183 (1461 words)

	TheFetus.net - Heart-hand syndrome, type 1 -Kathleen Helton, MD*, Luis F. Gonçalves, MD, Philippe Jeanty, MD, PhD
		The 18-year-old father was born with pulmonary atresia with ventricular septal defect, absent left and right thumbs and left radius, exophoria and a sacral dimple.
		Upper extremity skeletal changes most classically involve the thumb, but the entire upper extremity may be involved.
		A reduced fetal blood supply to the upper limb is thought to be associated with certain sporadic limb defects
	www.thefetus.net /page.php?id=419 (1581 words)

	Birth Defects by Diagnostic Code Group and Birth Year
		Frequencies include all children reported with a birth defect who were born in Michigan and whose mother was a resident at the time of birth.
		This problem can be expected to vary by facility which, in turn, can lead to geographic variations in case frequency counts for those areas where such facilities are located.
		It is due to the lack of interstate resident information exchange that rates are calculated only for resident children who are also born in Michigan.
	www.mdch.state.mi.us /PHA/OSR/BirthDefects/bdeftcausebrk.asp?MType=4 (615 words)

	PSU Vol 17, 2001
		CES affecting the upper third of the esophagus is very rare and usually produce respiratory symptoms such as stridor and repeated respiratory infections.
		The limb defects are due to mechanical rupture through the amnion in the presence of a persistent extraembryonic coelom or from adhesions of the amnion to necrotic embryonic tissue.
		The defect might arise congenitally from an abnormally wide orifice of a blood vessel during development of the linea alba.
	home.coqui.net /titolugo/PSU17.htm (5109 words)

	[No title] (Site not responding. Last check: 2007-11-02)
		The main aim of the present study was to classify cases of birth defects whether they are isolated or multiple, to identify the genetic etiology of cases and to evaluate the genetic versus environmental components of birth defects.
		In these patients defect of each extremity may be scored from 5 (maximal defect with absence of the whole limb) to 1 (equivalent forms of ectrodactyly).
		In such a case it is possible to compare 1) severity of defects of the upper and lower limbs for each type of deletion, 2) general severity of limb defects in different deletions.
	mail.medacad.org /www.ichg2001.org/abstracts/clinical.htm (9164 words)

	Avenues: A National Support Group for Arthrogryposis Multiplex Congenita \| Medline Abstracts, Arthrogryposis, 1997-1998
		As upper limb flexion contractures have been previously reported in individuals with partial distal 10q deletion, this sign should be considered as part of the clinical manifestations of 10q25-->qter monosomy.
		After having excluded the loci for Werding-Hoffmann's disease and for dominant distal spinal muscular atrophy with upper limb predominance, we were able to localise the gene to a 10 cM interval between the markers D12S78 and D12S1646 on chromosome 12q23-q24.
		Cleft palate and minor front limb contractures were induced in calves by maternal ingestion of the piperidine alkaloid-containing lupines, Lupinus formosus and L. arbustus.
	www.avenuesforamc.com /research/biblio.htm (4739 words)

	California Morbidity -- January, 1997
		One in 33 babies is born with structural birth defects - the leading cause of infant mortality infant death and childhood disability, and the fifth leading cause of years of potential life lost in the United States.
		Estimating the cost of each new case of a birth defect is useful since this cost represents the savings from preventing a case.
		Totals: About 10% of children with birth defects have more than one listed condition: row totals are less than column sums because total cost estimates are adjusted to avoid double counting.
	www.dhs.ca.gov /ps/dcdc/cm/970101cm.htm (792 words)

	Congenital Malformations Registry - 1995 Annual Report
		The eyes and the brain are often damaged.
		Transposition of the great vessels A congenital malformation in which the aorta arises from the right ventricle and the pulmonary artery from the left ventricle (opposite of normal), so that the venous return from the peripheral circulation is recirculated without being oxygenated in the lungs.
		Courtesy of the Texas Birth Defects* Monitoring Division
	www.health.state.ny.us /nysdoh/cmr/1995/append5.htm (2242 words)

	Fryns syndrome 3
		A multiple congenital anomaly syndrome of unusual facies, cleft palate, distal limb hypoplasia, lung maldevelopment, and other variable abnormalities.
		First considered to be lethal, the syndrome is now known to have a 14% survival rate.
		Abdomen: Herniation of abdominal contents into thoracic cavity due to hernia of the diaphragm and omphalocele.
	www.nlm.nih.gov /mesh/jablonski/syndromes/syndrome304.html (252 words)

	de Lange syndrome 1
		The most commonly occurring defects include growth deficiency, retarded psychomotor development, upper limb abnormalities, microbrachycephaly, and peculiar hair patterns giving the face its characteristic appearance, frequently associated with various neurological, behavioral, cardiovascular, gastrointestinal, dermatoglyphic abnormalities, and occasional Sandifer anomaly (abnormal body posturing, torticollis, and gastro-esophageal reflux with or without a hiatus hernia).
		The phenotype is variable and the affected infants may show different clusters of abnormalities.
		Extremities: Occasional large joints with limitation of motion of the upper limbs with arm aplasia or hypoplasia and phocomelia.
	www.nlm.nih.gov /mesh/jablonski/syndromes/syndrome260.html (447 words)

	eMedicine - Cornelia De Lange Syndrome : Article by Mustafa Tekin, MD (Site not responding. Last check: 2007-11-02)
		Associated findings may include gastroesophageal reflux (30-60%), which affects many children with irreversible esophageal scarring by the time intervention is attempted; pyloric stenosis (3%); malrotation or duplication of the bowel with obstruction; and congenital diaphragmatic hernia.
		Less-striking limb findings include single palmar flexion crease, clinodactyly of the fifth fingers, proximally placed thumbs, partial syndactyly of the second and third toes, and limitation of elbow extension.
		These abnormalities include growth retardation, limb defects, diaphragmatic hernia, hypoplastic forearms, underdeveloped hands, and typical facial defects.
	www.emedicine.com /ped/topic482.htm (2818 words)

	Children's Hospital Boston
		My Child Has (A-F) Look up information on your child's illness or condition via the links below or by using the "My Child Has" search box in the upper right corner of every page on this site.
		Each listing in this children's health encyclopedia includes links to the appropriate clinical departments and programs within Children's Hospital Boston.
		Chromosone Abnormalities and a Single Gene Defect: The Difference
	www.childrenshospital.org /mychildhas.cfm?topic=C (95 words)

	Orthopaedics Syndromes Second Page
		DONNAI-BARROW - DIAPHRAGMATIC HERNIA; EXOMPHALOS; ABSENT CORPUS CALLOSUM
		FRYNS - ACRAL DEFECTS; CLOUDY CORNEAE; DIAPHRAGMATIC DEFECTS
		HALAL (1986) - UPPER LIMB HYPOPLASIA; MULLERIAN DUCT ANOMALIES
	freeortho.com /syndromes2.html (1167 words)

	Poland Syndrome, Poland Anomaly, Poland Sequence, Poland's Syndrome, Poland's Anomaly, Poland's Sequence
		You can access the page on Poland anomaly by visiting Orphanet’s home page and typing "Poland anomaly" in the search box.
		National Center for Birth Defects and Developmental Disabilities
		Lean more in the Glossary of Medical Terms
	www.polands-syndrome.com (593 words)

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