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Robinow-Like Syndrome


Presentation

  • A thick cellulose layer present on the cell wall of S. ventriculiwas not observed on the surface of S. maxima.[dokumen.tips]
  • In addition, approximately 13 percent of infants with Robinow syndrome have heart (cardiac) defects that are present at birth (congenital heart defects).[rarediseases.org]
Broad Thumb
  • thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Broad toe Wide toe 0001837 Clinodactyly Permanent curving of the finger 0030084 Clitoral hypoplasia Small clitoris Underdeveloped clit [ more ] 0000060 Cryptorchidism Undescended testes Undescended[rarediseases.info.nih.gov]
Weakness
  • […] length of eyelashes [ more ] 0000527 Low-set ears Low set ears Lowset ears [ more ] 0000369 Nail dysplasia Atypical nail growth 0002164 Narrow palate Narrow roof of mouth 0000189 Oral cleft Cleft of the mouth 0000202 Retrognathia Receding lower jaw Weak[rarediseases.info.nih.gov]
Sepsis
  • Evoluţie Clinic, sugarul a prezentat sepsis în ziua a 9-a de spitalizare, justificându-se antibioticoterapia empirică cu spectru larg, cu evoluţie favorabilă.[ziladoc.com]
Ptosis
  • Enzimatic pathways of hormones synthesis from cholesterol anomalies: mental retardation (95% of cases), postpartum growth failure (82%), microcephaly (84%), structural brain anomalies (37%), palpebral ptosis (70%), cataract (22%), anteverted nostrils[ziladoc.com]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Thin upper lip vermilion Thin upper lip 0000219 Upslanted palpebral fissure Upward slanting of the opening between the eyelids 0000582 Percent of people who[rarediseases.info.nih.gov]
Shortened Nose
  • nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately small hands 0200055 Thin upper lip vermilion Thin upper lip 0000219 Upslanted palpebral fissure Upward slanting of the opening between[rarediseases.info.nih.gov]
Cleft Lip and-or Palate
  • Background van der Woude syndrome is an autosomal dominant syndrome characterized by a cleft lip or cleft palate, distinctive pits of the lower lips, or both. It is the most common syndrome associated with cleft lip or cleft palate.[emedicine.medscape.com]
Clitoral Hypoplasia
  • hypoplasia Small clitoris Underdeveloped clit [ more ] 0000060 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Delayed cranial suture closure 0000270 Delayed eruption of permanent teeth Delayed eruption of adult teeth 0000696 Delayed[rarediseases.info.nih.gov]

Workup

Hyponatremia
  • Investigations: WBC 22,700/mm3 (Ly 48%), Hgb 10.54g%; Plt 243,000/mm3; hepatic and renal markers within normal range; tendencies to hyponatremia and hyperpotassemia (with improvement in evolution); hypocholesterolemia (27 mg%).[ziladoc.com]

Treatment

  • Treatment Treatment of symptomatic syndrome Robinova. Prevention Prevention of the disease is to determine the likelihood of having a child with this anomaly.[health-and-beaty.blogspot.com]
  • Approximately 90% of thecells were broken within 1 to 2 mi.Enzyme treatments.[dokumen.tips]
  • Standard Therapies Treatment The treatment of Robinow 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

  • Cholesterolemia under 20 mg% represents bad prognosis in term of survival. SLOS patients can also exhibit hepatopathy (3), hearing loss, impaired visual acuity (cataract) (4) and failure to grow and develop.[ziladoc.com]

Etiology

  • Etiology. The disease cause remained unknown until 1993 when Irons and al (2) remarked, for SLOS patients, low plasma cholesterol levels and increased serum for sterol precursors such as 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC).[ziladoc.com]

Epidemiology

  • Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. Eur J Orthod. 2004 Feb. 26(1):17-24. [Medline]. Sertie AL, Sousa AV, Steman S, et al.[emedicine.medscape.com]
  • Epidemiology The disease prevalence was estimated to be between 1:20.000 – 1:60.000 births among caucasians and sex ratio is 1:1. Mortality and morbidity The rate of spontaneous abortions for SLOS foetuses is high.[ziladoc.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology The most prominent and consistent features of van der Woude syndrome are orofacial anomalies caused by an abnormal fusion of the palate and lips at 30-50 days postconception.[emedicine.medscape.com]
  • Pathophysiology. The consequence of enzyme deficit is accumulation of cholestorol precursors and plasma cholesterol reduction. The cholesterol is involved in synthesis of cell membranes, steroid hormones (Fig. 1), bile acids and myelin.[ziladoc.com]

Prevention

  • Prevention Prevention of the disease is to determine the likelihood of having a child with this anomaly. To do this, conducted a survey of both parents, as well as installed instances of the disease in relatives.[health-and-beaty.blogspot.com]
  • Episodes of jaundice may be triggered by stress such as exercise menstruation or not eating This prevents modification of bilirubin normal rate. www. It changes color only after alcohol is added to the solution.[lamayonnaise.fr]
  • Mutations in the ROR2 gene prevent cells from making any functional ROR2 protein, which disrupts development starting before birth and leads to the characteristic features of Robinow syndrome.[ghr.nlm.nih.gov]
  • Affected infants and children should also be carefully monitored to help prevent and/or immediately detect infections of the lungs (pneumonia) and to ensure prompt, appropriate treatment.[rarediseases.org]

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