Ebsteins anomaly of the tricuspid valve associated with. This hypothesis, based on experiments with amphibian eggs, was at first well received haddad and wilkins 1959. Get a printable copy pdf file of the complete article 4. Otto ullrich and his syndromes otto ullrich and his syndromes wiedemann, hans. This syndrome that was originally observed by ullrich, and designated as identical to turner syndrome, related the webbing of the neck, loose skin and other anomalies of the syndrome to accumulation of fluid in the embryo starting at the head and dispersing to the extremities as observed by bonnevie in mice. If you have access to a journal via a society or association membership, please browse to your society journal, select an article to view, and follow the instructions in this box. For language access assistance, contact the ncats public information officer. Clinical genetics owes ullrich the delineation and definition of several important genetic diseases and syndromes, most importantly the condition named after him and henry turner. Otto ullrich and his syndromes, american journal of. However, the introduction of chromosomal investigations and the finding of many new cytogenetic. The webbing syndrome ullrichturner with and without. This chromosomal anomaly can occur during gametogenesis or during. If you have problems viewing pdf files, download the. Turner syndrome turner syndrome or ullrichturner syndrome encompasses several conditions, of which monosomy x is the most common.
Turner syndrome ts, as noted by several of the contributors in this section, was. In case of termination of pregnancy postmortem examination was performed. There is short stature, webbing of the neck, an abnormally broad face with wideset eyes hypertelorism, drooping lids ptosis, lowset ears, lymphoedema and malformation of the urinary system. In humans, partial or total absence of one x chromosome is known as turner syndrome, ullrichturner syndrome or bonnevieullrichturner syndrome bondy, 2007, bonnevie, 1934, turner, 1938, sybert, 2001, ullrich, 1930. It is characterized by the presence of only one normal functioning x chromosome, the other x chromosome can be missing or abnormal. Ullrich turner syndrome, bonnevie ulrich syndrome, 45, x syndrome, chromosome x monosomy x, gonadal dysgenesis 45,x, schereshevkii turner syndrome, turner varny syndrome weaver syndrome. In europe, it is often called ullrichturner syndrome or even bonnevieullrichturner syndrome to acknowledge that earlier cases had also been described by european doctors. To explain turners and klinefelter s syndrome witschi et al. Bonnevieullrich syndrome, or pterygiumcolli syndrome, under kristine elisabeth heuch bonnevie, norwegian zoologist and geneticist, 18721950. A congenital condition of girls and women caused by complete or partial absence or deficiency of one x chromosome, characterized by short stature, a webbed neck, lowset ears, skeletal abnormalities, and infertility owing to ovarian failure. Mental and physical handicaps in connection with overripeness ovopathy, stenfert kroese, leiden, 1971 c. The eponym, noonan syndrome, was first proposed by dr.
Turner syndrome foundation genetic and rare diseases. The symptoms and severity of turner syndrome can be quite variable. The syndrome occurs in 12500 female births and nearly 99% of xo fetuses are aborted. Status bonnevieullrich and turners syndrome springerlink. The exact location of the genes on the xchromosome involved in turner syndrome has not been determined as of 2001. Most of the phenotypic characteristics of what is now called turners syndrome were first described by ullrich, 1 in 1930, in an 8yearold girl.
Bonnevieulrichturner syndrome definition of bonnevie. Description chromosomes are structures in the nucleus of every cell in the human body. Otto ullrich and his syndromes, american journal of medical. To explain turner s and klinefelters syndrome witschi et al. Symmetric form of bonnevieullrich syndrome american. Access to society journal content varies across our titles. Besides the typical turners syndrome there are rare occurances of a male turners syndrome with corresponding chromosome anomalies. Overall evaluation of the clinical value of prenatal screening for fetal free dna in maternal blood.
Unilateral developmental anomalies in sisters status bonnevie. Bonnevie received the kings medal of merit in gold in 1920, the order of st. Detection of low level sex chromosome mosaicism in ullrichturner syndrome patients. Bonnevieullrich syndrome definition of bonnevieullrich. Chromosomal abnormalities and oral anomalies robert j. All structured data from the file and property namespaces is available under the creative commons cc0 license. In 40 euploid fetuses and 34 aneuploid fetuses, 159. The relationship of the bonnevieullrich syndrome to other clinical syndromes is discussed. The presence of congenital hypertrophic pyloric stenosis was confirmed and the condition was relieved success fully by rammstedts operation on august 4. If you need to print pages from this book, we recommend downloading it as a pdf. Noonan syndrome a historical perspective heart views. Files are available under licenses specified on their description page. Pdf cleft palate associated with turners syndrome and. A synthesis of animal phenogenetics and clinical observations on a typical complex of developmental anomalies.
The chromosome constitution karyotype is often normal. Turner syndrome definition turner syndrome is a chromosomal disorder affecting females wherein one of the two xchromosomes is defective or completely absent. In gastric volvulus, triad of abdominal pain or distension, vomiting without emesis, and inability to pass a nasogastric tube. Congenital syndrome consisting of webbing of the neck pterygium colli, lymphoedema of the hands and feet, hypoplasia of bones and muscles, short stature, syndactyly, laxity of the skin, dystrophic nails, and motor disturbances of the cranial nerves. She presented at the midwest society for pediatric research in 1962 a clinical study of associated noncardiac malformations in children.
The absence of one chromosome x was initially described by ford ford et al. There appears to be no report of cases of the bonnevie ullrich syndrome in great britain. We report a case of cleft palate associated with turner syndrome and anterior cervical hypertrichosis. This paper reports on ullrichs teacher, his career, his personality. Turner syndrome is a symptom complex syndrome which is also called xo syndrome or bonnevieullrich syndrome. Patients generally are of short stature with undifferentiated streak gonads, sexual infantilism hypogonadism, webbing of the neck, cubitus valgus, elevated gonadotropins and. Bonnevie ullrich syndrome, or pterygiumcolli syndrome, under kristine elisabeth heuch bonnevie, norwegian zoologist and geneticist, 18721950. A case of bonnevieullrichs syndrome, corresponding to the variety status ullrich bilateralis, is described.
Height outcome of the recombinant human growth hormone. Bizarro 1938 described a mentally defective boy with widespread abnormalities including webbing of the neck and low ears. The first published report of a female with a 45,x karyotype was in 1959 by dr. It occurs in about 1 out of every 2500 female births. Bilateral aniridia, multiple webs and severe mental retardation in a 47,xxy48,xxxy mosaic. Instead of the normal xx sex chromosomes for a female, or xy for a normal male only one x chromosome is present and fully functional. Congenital heart disease in male and female subjects with somatic features of turners syndrome and normal sex chromosomes ullrichs and related syndromes. A case of bonnevie ullrich s syndrome, corresponding to the variety status ullrich bilateralis, is described. The measurements were analyzed using multilevel analysis. Direct familial transmission of the turner phenotype. This is, in addi tion, the first report to stress laboratory in vestigation of the syndrome. Yu b, lu by, zhang b, zhang xq, chen yp, zhou q, jiang j, wang hy. Direct familial transmission of the turner phenotype jama.
The bonnevieullrich syndrome europe pmc article europe. Zur genese des pterygium colli beim turnersyndrom springerlink. If you have problems viewing pdf files, download the latest version of adobe reader. Dermatoglyphics and turner syndrome acta geneticae. Analysis of the malformation data effect of exposure to. He had been a senior medical student and then a first year pediatric resident in the department of pediatrics in iowa city where dr. Coordinating care for children with turner syndrome. Bonnevieullrich bonnevieullrich maladie hereditaire transmise selon le mode recessif qui associe plusieurs malformations, entre autres. Girls and women with turner syndrome need ongoing medical care from a variety of specialists. Bonnevieullrichturner syndrome with elevated urinary gonadotropins in a nine year old child. Turner syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder of females. To date, the diagnosis has been made merely on morpho logic features, but this author cites a beta globulin deficiency and hyposthenuria as possible. A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome monosomy 45,x or 45,xo, associated with the loss of a sex chromosome x or y.
Ullrichs congenital atonic sclerotic muscular dystrophy. Congenital heart disease in male and female subjects with. Webbing of the neck, cubitus valgus, congenital lymphangiectatic edema, prominent ears, small mandible, ptosis, dystrophy of the nails, and hypoplastic nipples were among the physical findings he reported. Xx and xy turner phenotypes in a family jama pediatrics. Noonan syndrome a historical perspective noonan ja heart. Occasionally, in females with mild signs and symptoms of turner syndrome, the diagnosis is delayed until the teen or young adult years. Unfortunately, this book cant be printed from the openbook. Turner syndrome ts, also known 45,x, or 45,x0, is a genetic condition in which a female is. A few cases similar to the present one have been is reported. The syndrome is named after henry turner, an endocrinologist from illinois, who described it in 1938. Bonnevieullrich syndrome synonyms, bonnevieullrich syndrome pronunciation, bonnevieullrich syndrome translation, english dictionary definition of bonnevieullrich syndrome.
It was not possible to verify in this case an hereditary origin. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Charles ford and colleagues in harwell, oxfordshire, and guys hospital in london. The magic foundation genetic and rare diseases information. Multiple pterygium syndrome, american journal of medical. Chromosomes contain the genetic information necessary to direct the growth and normal functioning of all. At present, evidence exists that there is a locus for stature on the distal portion of the short arm. Turner syndrome is named for henry turner who, in 1938, was one of the first doctors to report on the disorder in the medical literature. Ullrichturner syndrome, bonnevieulrich syndrome, 45, x syndrome, chromosome x monosomy x, gonadal dysgenesis 45,x, schereshevkii turner syndrome, turner varny syndrome. Olav, 1st class, in 1946, and fridtjof nansens reward in 1935. Bonnevieullrichsyndrom altmeyers enzyklopadie fachbereich.
The search strategies were growth hormone or somatotropin or somatropin or somatotrophin or somatrophin or pituitary growth hormone or recombinant growth hormones and turner syndrome or ullrichturner syndrome or bonnevie ullrich syndrome or turners syndrome and publication type randomized controlled trials as limiter. Turner syndrome nord national organization for rare disorders. Megacystis microcolon intestinal hypoperistalsis syndrome mmihs is a multisystemic disorder in. Index terms starting with b 397 baastrups disease see kissing spine. The fetal neck region was studied by ultrasonography, followed by measurement of nuchal translucency and jugular lymphatic sacs. This condition has been extensively studied on the continent of europe, and ullrich 1949 now believes that the bilateral symmetrical form ofthis condition is identical with turners syndrome.
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