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]

Postural and limb deformities are present in the variant forms. Intrauterine growth restriction (IUGR). Short umbilical cord. Lethal Multiple Pterygium Syndrome Persistent flexure contraction at the knee. Scoliosis of spine. [fetalultrasound.com]

We here report an Egyptian family presenting with recurrent lethal multiple pterygium syndrome. [research-repository.uwa.edu.au]

The present findings suggest that LMPS may be a less heterogeneous entity than previously proposed. [ncbi.nlm.nih.gov]

• Microstomia

  Facial anomalies include hypertelorism, epicanthal folds, flat nasal root, microretrognathism and microstomia, down-slanting palpebral fissures, low-set malformed ears, and cleft palate. [cags.org.ae]

  These pterygia and cystic hygroma differentiate this condition from Pena-Shokeir syndrome.3 Facial anomalies include hypertelorism, epicanthal folds, depressed nose, microretrognathism and microstomia, downslanting palpebral fissures, low-set malformed [ncbi.nlm.nih.gov]

• Reduced Fetal Movement

  Escobar first diagnostic sign is that of reduced fetal movement detected by ultrasound or reported by mothers. [slideshare.net]

  Escobar syndrome is a common name for the non-lethal form of Multiple Pterygium syndrome, a highly rare congenital disorder that causes webbing of the skin around joints and reduces fetal movement. [tuck.life]

  Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. [genecards.org]

  The mother noticed reduced fetal movement in the pregnancies of the affected children. [cags.org.ae]

• Myopathy

  Here, the results indicate that LMPS can be considered as the extreme end of the RYR1-related neonatal myopathy spectrum. [diva-portal.se]

  In the majority of cases, the precise underlying cause will not be identified, however, occasionally a metabolic or neurodevelopmental disorder or a specific primary myopathy may be demonstrated, providing adequate autopsy investigations are under-taken [risweb.st-andrews.ac.uk]

  distal, CAP myopathy, Nemaline myopathy TPM3 CAP myopathy, Myopathy, congenital, with fiber- disproportion, Nemaline myopathy TRPV4 Brachyolmia (autosomal dominant type), Charcot-Marie-Tooth disease, Familial Digital arthropathy with brachydactyly, [genda.com.ar]

• Osteoporosis

  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]

  […] 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]

• Decrease in Height

  […] distress Newborn respiratory distress Respiratory distress, neonatal [ more ] 0002643 Pointed chin Pointy chin Small pointed chin Witch's chin [ more ] 0000307 Ptosis Drooping upper eyelid 0000508 Short stature Decreased body height Small stature [ more [rarediseases.info.nih.gov]

• Hypertelorism

  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]

  Turner's Syndrome Morquio Syndrome Ellis-van Creveld syndrome Femoral hypoplasia Lethal Pterygium syndrome Clinical Intrauterine growth retardation with poor foetal movements, marked neck oedema and hydrops, multiple pterygia and poor skeletal musculature, hypertelorism [mediscansystems.org]

  Facial anomalies include hypertelorism, epicanthal folds, flat nasal root, microretrognathism and microstomia, down-slanting palpebral fissures, low-set malformed ears, and cleft palate. [cags.org.ae]

  Facial features are: hypertelorism, antimongoloïd slanting of the palpebral fissures, flattened nasal bridge with hyproplastic nasal alae, micrognathia and cleft palate. Lung hypoplasia is the rule. [ncbi.nlm.nih.gov]

  […] omphalocoele 7 Antenatal ultrasound Described features are wide and include presence of cutaneous webs (pterygia) across joints presence of a cystic hygroma 4-5 presence of hydrops fetalis craniofacial micrognathia cleft palate 4-5 flattened nasal bridge hypertelorism [radiopaedia.org]

• 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]

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. so[email protected]. 12 Department of Medical Genetics [ncbi.nlm.nih.gov]

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

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]

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]

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]

(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]

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]

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]

The etiology of this condition is caused by homo-zygous or compound heterozygous mutations in the CHRNG gene, which encodes the gamma subunit of the acetylcholine receptor (AChR), locust 2q37.1. [pesquisa.bvsalud.org]

The importance of precise etiologic diagnosis in a midtrimester fetus with generalized edema and nuchal hygroma is emphasized. [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]