Presentation
Rarity of presentation prompted us to report it. Case Report An 18-year-old female, from tribal background, presented with two lower lip pits and a limping gait (Figure 1). [clinmedjournals.org]
Minimal syndactyly of toes 2/3/4 was present. II.1 was born with a bilateral cleft of the lip and palate, lower lip pits, oral synechiae, and ankyloblepharon. Popliteal pterygia were present. [jmg.bmj.com]
Patients present with extensive webbed skin running down the back of the entire leg, usually from the hip down to the heel. [limblength.org]
In males, uni- or bilateral cryptorchidism and absent or bifid scrotum may be present, with the penis usually being normal. No alterations have been observed in growth and intellect. [scielo.br]
VWS is present in approximately 2% of all cleft patients. [cureus.com]
Skin
- 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]
Musculoskeletal
- Limping Gait
Case Report An 18-year-old female, from tribal background, presented with two lower lip pits and a limping gait (Figure 1). [clinmedjournals.org]
Urogenital
- Small Scrotum
Abnormal genitalia are very common, particularly bifid scrotum and cryptorchidism in males and hypoplasia of the labia majora and uterus in females. [mdpi.com]
Workup
Saliva
- 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 (fig3D). [jmg.bmj.com]
Treatment
The choice of treatment method for popliteal pterygium of PPS may be difficult, but in general surgical treatment is preferred because the conservative treatments, including serial casting or traction, have unsatisfactory outcomes. [cureus.com]
What are the treatment options for popliteal pterygium syndrome? The treatment for popliteal pterygium syndrome is largely surgical. There is a minor role for observation in children with milder cases causing less functional impairment. [limblength.org]
My Approach: As in the treatment of AMC, Popliteal Pterygium Syndrome and Escobar Syndrome can be treated effectively without loss of motion and therefore most often without the use of an external fixator. [davidsfeldmanmd.com]
The various treatments our patient underwent over the years are reported. [ncbi.nlm.nih.gov]
Prognosis
Today, the prognosis and treatment of individuals with VWS are excellent. The prognosis of individuals with PPS will depend on severity. [cureus.com]
The prognosis is generally good. Growth and mental development are expected to be normal. However, the prognosis for physical disabilities depends on the severity of the pterygium, genital abnormalities and orofacial defect. [mdpi.com]
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]
When treated in a timely and appropriate manner by a multidisciplinary team, popliteal pterygium syndrome has a good prognosis. REFERENCES [scielo.br]
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]
Etiology
Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [Medline]. Hall JG. [medscape.com]
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]
Thoughts on the etiology of clefts of the palate and lip. Acta Genetica 5, 358–369 (1955). CAS Google Scholar Bocian, M. & Walker, A.P. Lip pits and deletion 1q32–q41. Am. J. Med. Genet. 26, 437–443 (1987). [nature.com]
Epidemiology
Epidemiology The diagnosis of PPS has been made in several ethnic groups, including Caucasian, Japanese, and sub-Saharan African. Males and females are equally likely to suffer from the syndrome. [bionity.com]
(May 2017) Epidemiology[edit] The diagnosis of PPS has been made in several ethnic groups, including Caucasian, Japanese, and sub-Saharan African. Males and females are equally likely to have the syndrome. [en.wikipedia.org]
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]
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. Am J Med Genet A. 2006 Sep 1. 140A(17):1834-9. [Medline]. Lin IW, Chueh HY, Chang SD, Cheng PJ. [medscape.com]
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]
India Date of Web Publication 21-Oct-2011 Correspondence Address: S K Bahetwar C/o, Department of Pediatric and Preventive Dentistry, SDKS Dental College and Hospital, Hingna, Nagpur. [jisppd.com]
Additionally, MRI scans of the knee may be helpful in the setting of operative planning, as the location of essential nerves and blood vessels may be mapped out, preventing injury during surgical resection of the pterygium. [limblength.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]
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]