Case presentation Two siblings, a 152 cm tall 22-year-old man and a 148 cm tall 28-year-old woman presented to us with of bowing of both legs. [proquest.com]

In this paper we present an infant with WNS syndrome with bilateral involvement of the femur. Similar clinical findings were defined in three other family members. Conflict of interest:None declared. [ncbi.nlm.nih.gov]

Individuals affected with this syndrome usually present with 11 pairs of ribs instead of 12. ... [accessanesthesiology.mhmedical.com]

One patient was an adult who presented with almost all the characteristic features of the disease. The second case was a 12-year-old girl who also presented with severe bone deformities of the upper limbs. [repositorio.unicamp.br]

• Short Stature

  Short stature and palatine implanted femurs with lateral bowing. DISCUSSION WNS syndrome is known as tibioperoneal diaphyseal toxopachyosteosis and characterized by short stature and bowing of both tibiae and fibulae. [ncbi.nlm.nih.gov]

  […] and fibula, broadening or 'tibialization' of the fibula, posterior cortical thickening of both bones, and short stature. [malacards.org]

• Pediatric Disease

  [Lesperance, Marci M] Curbside Consultation in Pediatric Asthma Curbside Consultation in Pediatric Dermatology Curbside Consultation in Pediatric Infectious Disease Developmental-Behavioral Pediatrics (4ª ed.) [murciasalud.es]

• Bowing of Tibia

  Antero-posterior bowing of both tibiae and fibulae with lateral bowing of the femurs. Short stature and palatine implanted femurs with lateral bowing. [ncbi.nlm.nih.gov]

  Features include anterior bowing of tibiae (saber shins) and lateral bowing of femora (usually bilateral), occasional mild bowing of ulna, radius, and humerus, and delayed ambulation in childhood. [accessanesthesiology.mhmedical.com]

• Bowing of The Long Bones

  The authors' experience and review of 37 cases reported since its original description in 1954 has revealed a definite association of diaphyseal bowing of other long bones and squaring of the pelvis. [ajronline.org]

  It primarily affects long bones and cartilage. Limb shortening, bowing of the long bones, and/or short stature may occur. [accessanesthesiology.mhmedical.com]

  Sometimes the long bone of the thigh (femur) is bowed. [rarediseases.org]

• Limitation of Neck Movement

  COMMENTS: We postulate that the congenital limitations in neck movements in our patient developed because of the marked fusion of the hypoplastic and occipitalized atlas and simultaneous C2-C3 fusion. [scielo.br]

  Comments: We postulate that the congenital limitations in neck movements in our patient developed because of the marked fusion of the hypoplastic and occipitalized atlas and simultaneous C2-C3 fusion. [jped.com.br]

• Severe Short Stature

  Affiliated tissues include thyroid and bone, and related phenotypes are abnormal cortical bone morphology and severe short stature OMIM® : 57 The diagnostic hallmarks of Weismann-Netter syndrome (WNS) are anterior bowing of the diaphyses of the tibia [malacards.org]

• Suggestibility

  In some cases, a family history suggesting genetic transmission of a mutation with an unknown locus has been reported. In this paper we present an infant with WNS syndrome with bilateral involvement of the femur. [ncbi.nlm.nih.gov]

• Frontal Bossing

  bossing - Hypoplasia of midface - Infantile hypotonia - Gross motor developmental delay - Normal intelligence - Normal life expectancy - Also at risk for cord compression due to odontoid hypoplasia Molecular Genetics: - Mutation in transmembrane domain [pedorthpath.com]

  Craniofacially, there was frontal bossing, a depressed nasal bridge, full cheeks, and protruding ears. His neck was short and there was a relative restriction of neck movements because of the cervical fusions. [scielo.br]

  On examination, the head was relatively big, acrocephalic with pronounced frontal bossing. [zdoc.site]

  Examination revealed short stature (-2SD), curly/kinky hair and frontal bossing. Oral examination showed anodontia (fig 1 ) and there was dimpling over his chin. He was deaf on the right side with normal hearing on the left side. [jmedicalcasereports.biomedcentral.com]

• Depressed Nasal Bridge

  Craniofacially, there was frontal bossing, a depressed nasal bridge, full cheeks, and protruding ears. His neck was short and there was a relative restriction of neck movements because of the cervical fusions. [scielo.br]

• Cesarean Section

  He was born at full term, delivered by Cesarean section, with a birth weight of 3,250 g and a length of 49 cm. [scielo.br]

• Communicating Hydrocephalus

  Many cases described in the literature are characterized by the presence of tibiofibular dysmorphism, most often, as the only abnormality.6 Of a total of 82 cases, 14 are pediatric.7 Other reported features have included communicating hydrocephalus,8 [scielo.br]

  Other reported features have included communicating hydrocephalus, marked kyphoscoliosis, costal deformity, flaring of the iliac wings and a horizontal sacrum. [jped.com.br]

In view of the paucity of reports guiding the treatment of the deformity, we propose a one-level/two-level osteotomy with intramedullary nail fixation as a treatment modality for the tibial bowing. [doi.org]

In view of the paucity of reports guiding the treatment of the deformity, we propose a one-level/two-level osteotomy with intramedullary nail fixation as a treatment modality for the tibial bowing. [docksci.com]

Prognosis - Bowing of legs- anterior- with dwarfism Not supplied. Treatment - Bowing of legs- anterior- with dwarfism Not supplied. Resources - Bowing of legs- anterior- with dwarfism [checkorphan.org]

Parents should talk to their children’s physicians and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

There is no unanimity of opinion as regards the etiology of the condition. [jamanetwork.com]

This case illustrates how the careful clinical and radiological assessment of such a case can lead to the adequate understanding of its etiology DESCRIPTION: We report a sporadic case of a 2-year-old male child who presented with radiological features [scielo.br]

The etiology of juveni le-onset famil ial nephrot ic syndrome is unknown. [dokumen.tips]

This case illustrates how the careful clinical and radiological assessment of such a case can lead to the adequate understanding of its etiology. [jped.com.br]

Its precise pathophysiology or etiology remains unclear. [biomedsearch.com]

Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. [ncbi.nlm.nih.gov]

Epidemiology (5ª ed.) [Gordis] Jekel's Epidemiology, Biostatistics, Preventive Medicine, and Public Health (4ª ed.) [Katz] Métodos de investigación clínica y epidemiológica (4ª ed.) [murciasalud.es]

Pathophysiology The pathogenesis is unknown. Assumed to be a primary metabolic abnormality of bone development. Diagnosis Clinical features consistent with the syndrome. [accessanesthesiology.mhmedical.com]

Its precise pathophysiology or etiology remains unclear. [biomedsearch.com]

[Biller, Jose] Stroke: Pathophysiology, Diagnosis, and Management (6ª ed.) [Grotta, James C.] Swaiman's Pediatric Neurology (6ª ed.) [Swaiman, Kenneth] The Massachusetts General Hospital Handbook of Neurology (2ª ed.) [murciasalud.es]

Prevention - Bowing of legs- anterior- with dwarfism Not supplied. Diagnosis - Bowing of legs- anterior- with dwarfism Not supplied. Prognosis - Bowing of legs- anterior- with dwarfism Not supplied. [checkorphan.org]

The radiographic findings are quite specific and allow easy differentiation of this entity from other disease states: knowledge of this syndrome by the radiologist should prevent unnecessary diagnostic evaluation by the clinician. [ajronline.org]

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Cricoid cartilage pressure was first described by Sellick in 1961 and consists of pressure applied on cricoid cartilage against the cervical vertebrae to occlude the upper esophagus and prevent regurgitation of gastric contents into the lung. um oftalmologista [tr-ex.me]