Skip to Main Content

++

Chromosomal disorder with a specific aspect (pterygium colli short neck and gonadal insufficiency).

++ ++
Ullrich-Turner syndrome
Graphic Jump Location

This 16-year-old girl has Ullrich-Turner syndrome. The short stature, wide chest, short and webbed neck, and delayed puberty are characteristic findings.

++

Turner-Varney Syndrome; 45X Syndrome; Bonnevie-Ulrich Syndrome; Monosomy X; XO Syndrome; Turner Syndrome.

++

X-linked chromosomal disorder resulting from one functional X chromosome. First described by Henry Hubert Turner, American endocrinologist in 1938, in a patient with sexual infantilism, webbed neck, cubitus valgus, and short stature. The genetic basis was recognized in 1959 by C.E. Ford et al.

++

1:2500 live births in the female gender.

++

Caused by a defect of one entire chromosome X (50% of patients), mosaicism (20% of patients) or two chromosomes X but one abnormal (30% of patients). Nearly 99% of XO fetuses are aborted. The primary defect is thought to be abnormal development of lymphatic channels in utero, resulting in fetal lymphedema, which prevents normal growth, rotation, and regression of fetal tissues, thus causing the Turner phenotype.

++

Small stature, short and broad neck, hypoplasia of the cervical vertebrae, pterygium colli, and gonadal dysgenesis are the most frequent and characteristic signs of the disease. Age of onset is variable according to the presentation: infant: lymphedema; childhood: short stature; adolescence: primary or secondary amenorrhea. Risk factors include advanced paternal age (isochromosome X cases) and mother affected with a mosaic or dilational variant of the Turner syndrome. For certitude, the diagnosis can be confirmed using karyotype studies.

++

Clinical features can concern all systems and part of the bodies: head (micrognathia, midfacial hypoplasia, deepening of the posterior cranial fossa, widely spaced mandible, large ears, blepharoptosis strabismus, epicanthal folds, highly arched palate, occasional cleft palate, premature tooth eruption), skeleton (thin ribs, short metacarpal and metatarsal bones, drumstick distal phalanges, pes cavus, Madelung deformity, cubitus valgus, deformed tibial condyles, hypoplastic and dislocated patellae, faulty fusion of the epiphyses, scoliosis, osteoporosis), cardiovascular system (coarctation of the aorta, dissecting aortic aneurysm, ventricular septal defect, atrial septal defect, dextrocardia, bicuspid aortic valve, hypoplastic left heart), abdomen (prune belly, telangiectases, hemangiomas, intestinal bleeding, protein-loosing enteropathy), genitourinary system (unilateral aplasia or hypoplasia of the kidneys, horseshoe kidneys, malrotation of the kidneys, duplication dysgenesis, and streak gonads), endocrinopathy (hypothyroidism, Hashimoto disease, diabetes mellitus), and skin and dermatoglyphs (puffy hands and feet, pigmented nevi, seborrhea, xerosis, keloid, nail hypoplasia, low hairline, hirsutism). Abnormally placed nipples are also very frequent. Mental retardation, deafness, blindness, anorexia nervosa, amenorrhea, and sterility can occur. This complex polymalformative syndrome benefits of many symptomatic treatments that have greatly improved patients outcome. Features vary with age of presentation: newborn: lymphedema of the hands and feet, small for age and excessive skin at nape of the neck; childhood and adolescence: short stature (98% of patients), gonadal dysgenesis (95% of ...

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessAnesthesiology

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.