Edit concept Question Editor Create issue ticket

Popliteal Pterygium Syndrome

PPS


Presentation

  • A syndrome of popliteal pterygium, cleft lip-palate, lower lip pits, eyelid adhesions, genito-urinary anomalies and digital anomalies is presented as the Popliteal pterygium syndrome.[ncbi.nlm.nih.gov]
Nail Abnormality
  • It is concluded that the presence of this distinctive nail abnormality in infants with cleft lip, cleft palate or both suggests the diagnosis of the popliteal pterygium syndrome.[ncbi.nlm.nih.gov]
  • PPS includes all the features of VDWS, plus popliteal pterygium, syngnathia, distinct toe/nail abnormality, syndactyly, and genito-urinary malformations.[en.wikipedia.org]
No Pubic Hair
  • Appropriate therapy includes surgical management of the popliteal web, cleft lip and palate surgery, and electrolysis therapy for unwanted pubic hair.[jmg.bmj.com]
Flexion Contracture
  • The main orthopedic problem is a severe flexion contracture of the knee and an equinus foot. Surgical treatment consists of resection of the web.[ncbi.nlm.nih.gov]
  • A history of an underdeveloped or minor pterygium of one leg, extending from the ischial tuberosity to the heel, which led to a minor flexion contracture of the knee, was reported. A clubfoot was operated on several times.[omicsonline.org]
  • As regarding the joints, the right shoulder and hip were elevated, hands were flexed with ulnar deviation at the wrists, the knees, hips, ankles and all toes had flexion contractures, with right club foot deformity, left calcinovalgus deformity of plantar-flexed[cags.org.ae]
Short Hands
  • Also, there were several patrilineal relatives with short stature and short hands and feet in the report of Hansson et al. [1976].[docslide.com.br]
Suggestibility
  • However, the presence of a pyramidal fold of skin over the nail of the hallux in family members suggested the diagnosis of popliteal pterygium syndrome.[ncbi.nlm.nih.gov]
Learning Difficulties
  • PPS is associated with feeding difficulties, delayed language development, problems with dentition, maxillofacial development and learning difficulties.[casereports.in]

Workup

Excessive Drooling
  • He developed bilateral cysts of the lower lip over the first year of life, which resulted in excess drooling and have been surgically excised on several occasions (fig 3 D).[jmg.bmj.com]

Treatment

  • The various treatments our patient underwent over the years are reported.[ncbi.nlm.nih.gov]

Prognosis

  • The prognosis is generally good, with normal mental development and the possibility to correct most of the alterations through targeted surgery.[ncbi.nlm.nih.gov]
  • The overall prognosis of PPS is good. Growth and intelligence are usually normal but success of surgery done for popliteal web depends on the severity of the web. Cryptorchidism may lead to infertility.[casereports.in]
  • When popliteal pterygium syndrome is treated in a timely and appropriate manner by a multidisciplinary team, a good prognosis is observed. Keywords: Pterygim. Cleft lip. Cleft palate.[rbcp.org.br]
  • When popliteal pterygium syn drome is treated in a timely and appropriate manner by a multidisciplinary team, a good prognosis is observed. Keywords: Pterygim. Cleft lip. Cleft palate.[zdoc.site]
  • When popliteal pterygium syndrome is treated in a timely and appropriate manner by a multidisciplinary team, a good prognosis is observed. Keywords : Pterygim; Cleft lip; Cleft palate.[scielo.br]

Etiology

  • 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]
  • Eshete MA, Adeyemo WL, Aregbesola B, Donkor P, Arthur FK, Agbenorku P, Olutayo J, Twumasi P, Braimah R, Oti AA, Plange-Rhule G, Obiri-Yeboah S, Abate F, Hoyte-Williams PE, Hailu T, Murray JC, Butali A タイトル The prevalence, penetrance, and expressivity of etiologic[genome.jp]

Epidemiology

  • Epidemiology DVWS has a variable expressivity and a high penetrance ranging from 89% to 99%. The prevalence in general population varies from 1:35,000 to 1:100,000 live births [ 14 ].[omicsonline.org]
  • Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.[genome.jp]
Sex distribution
Age distribution

Prevention

  • These patients have special dental needs and early diagnosis of the affected children is therefore important in order to initiate preventive dental care and carry out appropriate dental treatment at the optimal time.[ncbi.nlm.nih.gov]
  • Determining the relative risk of cleft lip and palate, on the basis of genetic background and environmental influence, including smoking, alcohol use, and dietary factors, will aid in genetic counselling and the development of future preventive measures[hkmj.org]
  • This did not prevent him from having a very active life. There was no cleft lip or palate in either of these men.[jmg.bmj.com]
  • At the age of 12 months, the child starting walking, a process that was tremendously hindered by the popliteal pterygium that prevented upright walking.[rbcp.org.br]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!