CASE: In the present report, we describe a patient with WRS followed for 17 years at the Instituto de Genética, Universidad Nacional de Colombia; this is an exceptional survival period for a person with WRS.[ncbi.nlm.nih.gov]
Abstract A boy with features suggesting the diagnosis of Wiedemann-Rautenstrauch syndrome (WRS) or neonatal progeroid syndrome is presented.[ncbi.nlm.nih.gov]
WRS patients are characterized by premature aging present at birth including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and thick joints, and neonatal teeth in some cases.[ncbi.nlm.nih.gov]
Abstract We describe a girl who presents the features of Wiedemann-Rautenstrauch syndrome. This autosomal recessive condition has characteristic radiographic findings which can be considered manifestations of the syndrome.[ncbi.nlm.nih.gov]
The boy presented with major skeletal abnormalities, which receded during the first few months of life.[doi.org]
- A dictionary of medical eponyms Related people Hans-Rudolf Wiedemann Thomas Rautenstrauch A congenital syndrome characterised by intrauterine growth retardation, low birth weight, failure to thrive, shortstature, widely open cranial sutures, a progeria-like[whonamedit.com]
There have been over 30 cases of WR. [2] WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism. [3] Presentation Affected individuals exhibit intrauterine and postnatal growth retardation, leading to shortstature and[popflock.com]
In addition, in some cases, affected infants may experience swallowing (dysphagia) and feedingdifficulties that may contribute to growth delays and failure to thrive. Progressive neurological deterioration may occur in WRS.[rarediseases.org]
In addition, infants and children with WRS are often prone to recurrentrespiratoryinfections, which may result in life-threatening complications.[rarediseases.org]
[…] including a large head (macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid ( entropion ), widened anterior fontanelles, hollow cheeks (malar hypoplasia), general loss of fat tissues under the skin ( lipoatrophy ), delayed tooth eruption[en.wikipedia.org]
[…] abnormalities including a large head (macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid (entropion), widened anterior fontanelles, hollow cheeks (malar hypoplasia), general loss of fat tissues under the skin (lipoatrophy), delayed tooth eruption[medbox.iiab.me]
[…] including a large head (macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid ( entropion ), widened anterior fontanelles , hollow cheeks (malar hypoplasia), general loss of fat tissues under the skin ( lipoatrophy ), delayed tooth eruption[popflock.com]
Molecular karyotyping by means of BAC array with 1 Mb resolution revealed several chromosomal defects in this patient. (1) a submicroscopic microdeletion was detected on the longarm of chromosome 6.[ashg.org]
Most infants and children with Wiedemann-Rautenstrauch syndrome also have unusually thin arms and legs; abnormally largehands and feet; progressive neurological and neuromuscular abnormalities; varying degrees of mental retardation; and severe delays[checkorphan.org]
Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, bluesclera, flat nose with anteverted nares, choanal atresia, and glossoptosis).[icd10data.com]
He had alo-pecia of eyebrows and eyelashes, bluescleras, low-set androtated ears, thin lips, and down-slanting mouth angles.Four teeth were observed at delivery, 2 yellowish maxil-laries and 2 mandible incisors.[docslide.com.br]
We report for the first time the findings of thin central corneas and lagophthalmos in WRS. Copyright 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]
mentalretardation and dysmorphism. [4] Genetics [ edit ] This condition has been associated with mutations in the POLR3A gene. [5] This gene is located on the long arm of chromosome 10 (10q22.3).[en.wikipedia.org]
mentalretardation and dysmorphism . [8] Marfan lipodystrophy syndrome (MFLS) has sometimes been confused with Wiedemann–Rautenstrauch syndrome, since the Marfanoid features are progressive and sometimes incomplete. [9] MFLS is caused by mutations near[medbox.iiab.me]
mentalretardation and dysmorphism . [4] Genetics This condition has been associated with mutations in the POLR3A gene. [5] This gene is located on the long arm of chromosome 10 (10q22.3).[popflock.com]
Abnormal findings included a generalized virtual absence of subcutaneous fat, sparse scalp hair, prominence of veins and muscles, a large and persistent anterior fontanelle and facial dysmorphism (triangular agedface, prominent eyes and scalp veins).[ncbi.nlm.nih.gov]
face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities).[ncbi.nlm.nih.gov]
At 1 year ofage, hyperprolactinemia remained, FSH and LH were nor-mal, whereas testosterone levels decreased signicantly.At 9 years, his prolactin levels were within the normalrange for adults, as were those for testosterone, GH, andparathormone.[docslide.com.br]
Our first patient also has excessive joint contractures, persisting thrombocytosis and rectal prolapse. We evaluated bone mineral findings in our two patients with WRS and recommend caution when handling children with WRS.[ncbi.nlm.nih.gov]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.de]
Current treatment procedures Infantile hemangiomas are the most common benign tumors Thrombotic microangiopathies – hemolytic-uremic syndromes and thrombotic thrombocytopenic purpura Thrombotic microangiopathies are a heterogeneous group of disease Nonhealing[prolekare.cz]
Treatment is symptomatic only. WRS has progressive course and early lethality. The first Ukrainian case of WRS is described and the literature is reviewed. Keywords Wiedemann-Rautenstrauch syndrome; first Ukrainian clinical case; review[iej.zaslavsky.com.ua]
Standard Therapies Treatment The treatment of Wiedemann-Rautenstrauch syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[rarediseases.org]
Prognosis - Neonatal progeroid syndrome Not supplied. Treatment - Neonatal progeroid syndrome Not supplied. Resources - Neonatal progeroid syndrome Not supplied.[checkorphan.org]
[…] syndromes, which include Hutchinson–Gilford Progeria, De Barsy syndrome, Cockayne syndrome, Berardinelli–Seip syndrome, Leprechaunism and Hallermann Streiff; however, these syndromes have different ages of presentation and clinical manifestations. 16 The prognosis[nature.com]
Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused[amazon.co.jp]
EtiologyEtiology remains unknown. An increased chromosomal breakage, observed in some cases, suggests that DNA repair defects could be involved in the pathogenesis of this disorder.[orpha.net]
However, many etiological and pathological aspects of this syndrome remain unknown. Copyright 2005 Wiley-Liss, Inc.[ncbi.nlm.nih.gov]
Elsevier Health Sciences , 18 ago. 2013 - 979 páginas Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders[books.google.es]
However, many etiological and pathological aspects of this syndrome remainunknown.[docslide.com.br]
Each chapter includes a description of the specific abnormality-including occasional associated abnormalities-natural history, etiology, and references.[amazon.co.jp]
Summary Epidemiology More than 30 patients have been reported.[orpha.net]
Neurology and Neurosurgery Czech and Slovak Ophthalmology Czech and Slovak Psychiatry Czech Geriatric Review Czech Gynaecology Czech Rheumatology Czech Dental Journal Czech Urology Czech-Slovak Dermatology Czecho-Slovak Pathology Czech-Slovak Pediatrics Epidemiology[prolekare.cz]
The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.es]
[…] phenotypic characteristics in WRS are pseudohydrocephalus, craniofacial disproportion, reduced subcutaneous fat, thin skin, rigid joints and neonatal teeth. 4 , 5 , 6 , 7 Inheritance pattern is known, however, neither the molecular-genetic mechanisms nor the pathophysiology[nature.com]
Home Health Centers Wellness, Prevention & General Health Arthritis Asthma & Allergies Child & Adolescent Health Diabetes Digestive Disorders / GERD Emotional Well-Being Heart Disease High Cholesterol Hypertension Pain Disorders Men's Health Senior Health[drdoleary.com]
Deemed the “World’s Ugliest Woman” in a YouTube video that went viral when she was in high school, Velásquez has a rare syndrome that makes her look a lot older than she is and prevents her from gaining weight.[medicaldaily.com]
Extraction may help prevent problems associated with the delayed loss of baby teeth, including overcrowding and developing a second row of teeth when permanent teeth come in.[knowyourdisease.com]
For National Bullying Prevention Month in 2015, she hosted a social media challenge for Bystander Revolution’s Month of Action.[evonews.com]
Your child's doctor may prescribe drugs to lower cholesterol or prevent blood clots. A low dose of aspirin every day can help prevent heart attacks and stroke. Growth hormone can help build height and weight.[webmd.com]