Symptoma

Lethal Multiple Pterygium Syndrome

LMPS

Pterygia were present in two or more body areas overlying predominantly the large joints; joint contractures always accompany the pterygia. [ncbi.nlm.nih.gov]

  • Lymphadenopathy

    […] corpus callosum with peripheral neuropathy (Andermann syndrome) SLC26A2 Achondrogenesis type 1B, Atelosteogenesis type 2, De la Chapelle dysplasia, Diastrophic dysplasia, Recessive Multiple Epiphyseal dysplasia SLC29A3 Dysosteosclerosis, Histiocytosis-lymphadenopathy [genda.com.ar]

  • Cardiomegaly

    Export Citation: APA/MLA Format Download EndNote Download BibTex MeSH Terms Descriptor/Qualifier: Abnormalities, Multiple / diagnosis* Adult Cardiomegaly / etiology Collagen Diseases / etiology, physiopathology Female Fetal Movement Genes, Lethal Humans [biomedsearch.com]

  • Ulcer

    Eye malformations (congenital cataracts and corneal ulceration). Postural and limb deformities are present in the variant forms. Intrauterine growth restriction (IUGR). Short umbilical cord. [fetalultrasound.com]

  • Osteoporosis

    […] leprechaunism, megalocornea with multiple skeletal anomalies, Möbius syndrome, nemaline myopathy, oculodentodigital syndrome, ophthalmomandibulomelic dysplasia, orocraniodigital syndrome, otopalatodigital syndrome, Pfeiffer syndrome, Prader-Willi habitus /osteoporosis [emedicine.medscape.com]

    Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease MYH7 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage NEB Nemaline myopathy OCRL [genda.com.ar]

  • Short Forearm

    The sonographically detectable symptoms consisted of polyhydramnios, hygroma colli, diaphragmatic hernia, scoliosis, short forearms, hypokinesia of the fetus and pterygia over the large joints. [ncbi.nlm.nih.gov]

  • Short Humerus

    The two-dimensional (2D) ultrasound showed a 24 weeks fetus in breech presentation, with ascites and subcutaneous edema (suggestive of fetal hydrops) [Figure 1] a, large multi septate cystic hygroma [Figure 1] b, short humerus, bilateral pleural effusion [jfmpc.com]

  • Neck Swelling

    The classification byHall [1984] is based on clinical findings, the onset of in-trauterine growth retardation, and the timing and ex-tent of neck swelling, as well as the presence or absenceof bony fusions and errors of bone modelling. [docslide.com.br]

  • Neck Mass

    Other associated features include ocular hypertelorism, nuchal edema or cystic neck masses, loose skin, decreased muscle mass and hypoplastic lungs. Three variants are described (2): Bartsocas-Papas syndrome (lethal popliteal syndrome). [fetalultrasound.com]

Differentiation is difficult, as there is no consistent agreement on a workup protocol for autopsies. [ncbi.nlm.nih.gov]

Ap-parently, several subgroups of LMPS exist.Differentiation is difficult, as there is no con-sistent agreement on a workup protocol forautopsies. [docslide.com.br]

Froster UG, Stallmach T, Wisser J, Hebisch G, Robbiani MB, Huch R, Huch A: Lethal multiple pterygium syndrome: Suggestion for a consistent pathological workup and review of reported cases. Am J Med Genet 1997;68:82–85. [karger.com]

Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases. Am J Med Genet 68:82–85, 1997. CrossRef PubMed Google Scholar 14. [link.springer.com]

[…] trimester of the pregnancy.[6,8,10] but first trimester ultrasound diagnosis especially in the context of recurrence is also possible.[11] The risk of syndrome for the offspring is affected by the inheritance pattern; therefore a comprehensive genetic workup [perinataljournal.com]

[email protected] 11 Department of Clinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK. [email protected] 12 Department of Medical Genetics [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prepare for clinical challenges and save time in addressing them thanks to expert advice on treatment options from international contributors. [books.google.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

(Outcomes/Resolutions) The prognosis depends on the severity of Multiple Pterygium Syndrome Escobar type has a much better prognosis than the lethal type.This condition does not worsen after birth of the child, and the affected individuals typically do [dovemed.com]

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]

Dysplasia Prevalence Etiology Prognosis Features Thanatophoric dysplasia 1 in 10,000 Sporadic Lethal Limbs: very short. Thorax: narrow. Trunk: normal. Head: large with prominent forehead. Type I Femurs: curved (telephone receiver). [fetalmedicine.org]

Due to its lethal nature, early antenatal diagnosis and option for termination of pregnancy should be discussed with parents, along with awareness that occasional cases may have a good prognosis. [indianpediatrics.net]

Limb Deformities, Congenital Lymphangioma / etiology, ultrastructure Male Neck / abnormalities Pregnancy Pterygium / etiology* Skin Abnormalities Skin Neoplasms / etiology, ultrastructure Syndrome Comments/Corrections Comment In: Am J Med Genet. 1991 [biomedsearch.com]

In discussing the case, we consider the probable autosomal recessive inheritance pattern and raise questions about the etiology and heterogeneity of this syndrome. [ncbi.nlm.nih.gov]

In conclusion, our report adds further evidence for the involvement of the nebulin gene in the etiology of fetal akinesia deformation sequence/lethal multiple pterygium syndrome. [research-repository.uwa.edu.au]

Summary Epidemiology In total, 47 foetuses with LMPS have been reported in 28 families. Of these cases, 28 foetuses were male and 19 were female. Fourteen of the 28 families had affected males only, including five with multiple affected males. [orpha.net]

You can help by adding to it. ( 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 suffer from the syndrome. [en.wikipedia.org]

Rasmussen, SA, Bieber, FR, Benacerraf, BR, Lachman, RS, Rimoin, DL, Holmes, LB: Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet 1996 ;61: 49 – 58. Google Scholar Crossref Medline 6. [journals.sagepub.com]

The Pathophysiology has not yet been established, but one theory postulates that the manifestations are due to a genetically determined insult that causes both a fetal akinesia sequence and jugular lymphatic obstruction sequence. [fetalultrasound.com]

Yet, despite these associations, no pathophysiologic mechanism is evident. [3]. [ijri.org]

In our case, mouth opening was two finger breadths with the presence of pterygium and contracture of neck preventing neck extension. We could insert size 2 LMA without difficulty. [saudija.org]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

After birth, the condition does not worsen and nor does it prevent a normal life expectancy. Due to the rarity of the disorder, there are no known figures for the number of people with Escobar (GHR.gov). [tuck.life]