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]

The boy presented with major skeletal abnormalities, which receded during the first few months of life. [doi.org]

@article{17007c4cf6794ba98e11e19f6cc6ae64, title "Radiographic findings in Wiedemann-Rautenstrauch syndrome", abstract "We describe a girl who presents the features of Wiedemann-Rautenstrauch syndrome. [moh-it.pure.elsevier.com]

[…] the present patient provides new knowledge about the naturalevolution of this syndrome. [docslide.com.br]

• Short Stature

  Patients have premature aging aspect, short stature and a poorly muscled build. [accessanesthesiology.mhmedical.com]

  Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth. [en.wikipedia.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, short stature, widely open cranial sutures, a progeria-like [whonamedit.com]

  stature and an aged appearance from birth. [medbox.iiab.me]

  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 short stature and [popflock.com]

• Feeding Difficulties

  In addition, in some cases, affected infants may experience swallowing (dysphagia) and feeding difficulties that may contribute to growth delays and failure to thrive. Progressive neurological deterioration may occur in WRS. [rarediseases.org]

• Failure to Thrive

  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, short stature, widely open cranial sutures, a progeria-like [whonamedit.com]

  Patients with WRS also experience poor weight gain, and failure to thrive through their lifetime. [rarediseases.org]

• Large Hand

  hands and feet with long fingers and toes were found. [ncbi.nlm.nih.gov]

  Most infants and children with Wiedemann-Rautenstrauch syndrome also have unusually thin arms and legs; abnormally large hands and feet; progressive neurological and neuromuscular abnormalities; varying degrees of mental retardation; and severe delays [checkorphan.org]

  hands large hand 0001176 Long foot Disproportionately large feet large feet long feet [ more ] 0001833 Long penis Enlarged penis 0000040 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Micrognathia Little lower [rarediseases.info.nih.gov]

• Long Toes

  toe Increased length of toes Long toes [ more ] 0010511 Low-set ears Low set ears Lowset ears [ more ] 0000369 Myalgia Muscle ache Muscle pain [ more ] 0003326 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Osteopenia [rarediseases.info.nih.gov]

• Short Humerus

  0006480 Premature skin wrinkling 0100678 Prolactin excess 0000870 Recurrent otitis media Recurrent middle ear infection 0000403 Recurrent skin infections Skin infections Skin infections, recurrent [ more ] 0001581 Short femur Short thighbone 0003097 Short [rarediseases.info.nih.gov]

• Alopecia

  Prominent scalp veins are noticeable (made more obvious by alopecia), as well as prominent eyes. [teamcarlyq.com]

  Other signs and symptoms of this progressive disorder include : Hair loss (alopecia), including eyelashes and eyebrows Hardening and tightening of skin on trunk and extremities (scleroderma) Loose, aged-looking skin Head too large for face Prominent scalp [knowyourdisease.com]

  […] symptoms and signs of HGPS include: • Prominent eyes • Visible veins • Thin lips • Head is not proportional to the body and the head is too large for the face • Scleroderma or the tightening and hardening of the skin on the extremities and the trunk • Alopecia [myhealthyfeeling.com]

  Alopecia of his hair,eyelashes, and eyebrows has persisted. There is no denti-tion. He has a prominent nose, bilateral cryptorchidism,and hypoplasia of penis. His skin texture is softer thanbefore. [docslide.com.br]

• Blue Sclera

  Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, blue sclera, flat nose with anteverted nares, choanal atresia, and glossoptosis). [icd10data.com]

  sclerae Whites of eyes are a bluish-gray color 0000592 Congenital malformation of the left heart 0045017 Dysplastic pulmonary valve 0005164 Hyperthyroidism Overactive thyroid 0000836 Increased serum estradiol 0025134 Increased serum testosterone level [rarediseases.info.nih.gov]

  He had alo-pecia of eyebrows and eyelashes, blue scleras, 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]

• Lagophthalmos

  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]

• Aged Face

  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 aged face, prominent eyes and scalp veins). [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]

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]

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]

The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. [healthmedicinet.com]

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]

Etiology Etiology 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, 18.08.2013 - 979 Seiten 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.de]

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]

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]

Pathophysiology Unknown. Diagnosis Progeroid appearance at birth and during infancy. Clinical aspects Patients have premature aging aspect, short stature, and a poorly muscled build. [accesspediatrics.mhmedical.com]

[…] 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]

Wiedemann-Rautenstrauch syndrome. 61 Temel SG...Bertelli M 32555393 2020 31 Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts. 61 Baez-Becerra CT...Arboleda G 32976914 2020 32 Pathophysiology [malacards.org]

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]

In 12 patients the diagnosis was suggestive but lack of data prevented a definite diagnosis, and in 24 patients an alternative diagnosis was likely. [observatorio.fm.usp.br]

For National Bullying Prevention Month in 2015, she hosted a social media challenge for Bystander Revolution’s Month of Action. [evonews.com]

Prevention - Neonatal progeroid syndrome Not supplied. Diagnosis - Neonatal progeroid syndrome Not supplied. Prognosis - Neonatal progeroid syndrome Not supplied. Treatment - Neonatal progeroid syndrome Not supplied. [checkorphan.org]

There is an increased risk of intracranial hemorrhage during induction of anesthesia and special care must be given to prevent this complication. [accesspediatrics.mhmedical.com]