We present the evolution of a case from birth to 5 years and we compared this case with the existing literature. REFERENCES Pivnick E, Angle B, Kaufman R, Hall B, et al. [medigraphic.com]

We reported a case of a three-days old male neonate with features of WRS presented with fatal hyperkalemic renal failure which is a unique presentation not reported before in the cases affected with this syndrome. [cureus.com]

Case presentation We present a family of two affected male siblings, born to a non-consanguineous couple of Persian Jewish descent. [gimjournal.org]

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. [repository.urosario.edu.co]

WRS, also known as the neonatal progeroid syndrome (NPS), differs from other progerias in the complex of signs and symptoms present at birth (12). [brieflands.com]

• Short Stature

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

  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]

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

  Diagnosis In most patients, WRS is diagnosed shortly after birth, based upon thorough clinical evaluation and identification of characteristic physical findings such as: short stature, characteristic craniofacial and skeletal malformations, and absence [boisestate.edu]

• Feeding Difficulties

  Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. [malacards.org]

  In some cases, if affected infants and children experience swallowing and feeding difficulties and cannot feed appropriately by mouth, a tube may be surgically inserted into the stomach or a portion of the small intestine (tube feeding) to help provide [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]

  The children’s failure to thrive caused extreme parental anxiety and frustration. [gimjournal.org]

  […] to thrive, short stature, a progeroid appearance, hypotonia, variable mental impairment, and death in childhood (summary by Toriello, 1990). (264090) [malacards.org]

• Poor Oral Hygiene

  Multiple carious teeth in the patient were caused by poor oral hygiene. Tooth loss due to decay in a patient with WRS and severe gum atrophy was first reported by Shawky et al. (5). [brieflands.com]

• 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]

• Alopecia

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

  HGPS is characterized by features reminiscent of normal ageing such as alopecia, skin wrinkling and osteoporosis. [annalspc.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]

  She had the skew deviation of the left eye, depressed nasal bridge, and maxillary dentoalveolar protrusion, prominent forehead and scalp veins, low-set small ears, sparse and thin hair of the scalp, eyebrows, and eyelashes, alopecia, and large crusted [brieflands.com]

• Large Hand

  hands and feet with long fingers and toes + + + + + + + NR + + + + - Prepucial hypoplasia NR NR NR - + + - Large penis + + NR - - - - Cryptorchidism NR NR + - + + + Gynaecomastia NR NR NR - + + - Lipoatrophy + + + + + + + + + + + - + Buttocks' fat pads [cureus.com]

  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]

• Short Humerus

  […] femur Short thighbone 0003097 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Skeletal muscle hypertrophy Increased skeletal muscle cells 0003712 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Submucous [rarediseases.info.nih.gov]

• Long Toes

  […] fingers 0100807 Long 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 [ [rarediseases.info.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). [lib.ugent.be]

• Narrow Nose

  Characteristic facial features include a larger head, narrow nose bridge, narrow nasal tip, thin vermilion of the upper and lower lips, and a small mouth [1, 2]. [ijponline.biomedcentral.com]

• Prominent Occiput

  Other Reports Palestine Megarbane and Loiselet (1997) reported a Palestinian girl in Lebanon with a progeroid appearance, with prominent occiput, blepharophimosis, cataract, arthrogryposis of the upper limbs, and severe pulmonary stenosis. [cags.org.ae]

• Global Developmental Delay

  developmental delay 0001263 Growth hormone deficiency 0000824 Hearing abnormality Abnormal hearing 0000364 Hepatic steatosis Fatty infiltration of liver Fatty liver [ more ] 0001397 Hip dysplasia 0001385 Hirsutism Excessive hairiness 0001007 Hydrocephalus [rarediseases.info.nih.gov]

Management The treatment of this syndrome is generally directed towards specific symptoms that the individual is experiencing. There is not a treatment that will cure the syndrome instead they are supportive and symptomatic. [boisestate.edu]

Management and treatment No specific treatment is possible. General supportive care including help in coping with the progressive nature of the disorder is indicated. [orpha.net]

Pakhomova, Use of Zinkit in Combination Treatment of Patients with Dwarfism, INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (Ukraine): No. 1.49 (2013) O.V. Bolshova, N.M. [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]

More reports are needed to stand on the nature, pathogenesis, and prognosis of this rare syndrome. References Carrero D, Soria-Valles C, López-Otín C: Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells. [cureus.com]

Prognosis This is a rare genetic disorder that leads to a decreased life expectancy in affected individuals. The life expectancy and severity of this syndrome both vary from case to case. [boisestate.edu]

Prognosis Many reported patients died in the first year of life; however, survival into adulthood has also been reported. [orpha.net]

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

The condition carries a poor prognosis and no effective therapy is currently approved. [annalspc.com]

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]

Based on these observations, several hypothesis could be withdrawn concerning the etiology of WRS. [pubmed.ncbi.nlm.nih.gov]

However, many etiological and pathological aspects of this syndrome remain unknown. © 2005 Wiley-Liss, Inc. Este ítem aparece en las siguientes colecciones Artículos [6106] [repository.urosario.edu.co]

However, many etiological and pathological aspects of this syndrome remain unknown. Copyright 2005 Wiley-Liss, Inc. [ncbi.nlm.nih.gov]

People who have this syndrome: Facial features that make them appear older (larger head, triangular face with prominent forehead, pointed chin, lower set ears, lower eyelids) Translucent skin with no fat underneath it Little to no hair on their head Etiology [boisestate.edu]

There are some children who live into their teens or twenties but this is not common Epidemiology WRS is an extremely rare disease that appears to affect males and females equally. WRS has been observed in various ethnic and racial groups. [boisestate.edu]

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]

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. [pubmed.ncbi.nlm.nih.gov]

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]

[…] phenotypic characteristics in WRS are pseudohydrocephalus, craniofacial disproportion, reduced subcutaneous fat, thin skin, rigid joints and neonatal teeth. (4-7) Inheritance pattern is known, however, neither the molecular-genetic mechanisms nor the pathophysiology [go.gale.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]

Abnormal subunits can prevent the binding of the RNA polymerase III enzyme or result in an RNA polymerase III with decreased ability to synthesize RNA. [ivami.com]

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]

The abnormal subunits may prevent assembly of the RNA polymerase III enzyme or result in an RNA polymerase III with impaired ability to synthesize RNA. [encyclopedia.pub]