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

We present a sporadic case of lethal MPS presented at our institute. Case Report A 26-year-old G4P3L3A0 was referred to our hospital for USG detected multiple fetal malformations at 23 weeks of gestation. The patient had nonconsanguineous marriage. [jfmpc.com]

We present the findings from a review of 14 fetuses with features of LMPS from the archives of the Hammersmith Hospital Perinatal Pathology Department. [risweb.st-andrews.ac.uk]

It is primarily characterized by the presence of pterygia (or wings) present in two or more body areas overlying predominantly the large joints. Accompanying joint contractures are almost always present. [radiopaedia.org]

• 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]

• 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]

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]

[…] 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]

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]

[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]

Alsiddiky Medicine European review for medical and pharmacological sciences 2015 Although new technologies have improved the treatment of children with EOS but it continues to be challenging with high complication rates, new treatment techniques based [semanticscholar.org]

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]

Its treatment is more difficult than other congenital knee contractures, and treatment is contraindicated if quadriceps function is lost. Treatment of equinus deformity is required to prevent recurrence. [omicsonline.org]

(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 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]

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. Crown Copyright © 2017. Published by Elsevier B.V. All rights reserved. [ncbi.nlm.nih.gov]

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]

It is a genetic autosomal recessive disorder whose pathophysiology is still unknown. [pesquisa.bvsalud.org]

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]

Parents can be offered preventive measures such as preimplantation genetic diagnosis if they choose to do so. [ncbi.nlm.nih.gov]

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]