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]

ORPHA:65743 Synonym(s): Distal arthrogryposis type 8 Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood ICD-10: Q79.8 OMIM: 178110 UMLS: C1867440 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information [orpha.net]

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]

The subunit is present before the 33rd week of life and is important for neuromuscular development (Hoffman et al., Am J Hum Genet, 2006). We report dizygotic twin boys with clinical features of Escobar syndrome. [ashg.org]

Weiner, Bernard Gonik, Caroline Crowther, and Stephen Robson present an evidence-based approach to the available management options, equipping you with the most appropriate strategy for each patient. [books.google.com]

• Pleural Effusion

  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]

  Examination of the chest revealed bilateral pleural effusions [Figure - 2]. Abdominal viscera were unremarkable and there was no ascites. Fetal extremities were in a fixed flexed position. [ijri.org]

  Prenatal ultrasound examination at 18 weeks of gestation revealed cystic hygroma, pleural effusion and ascites compatible with hydrops fetalis. [bmcmusculoskeletdisord.biomedcentral.com]

• Failure to Thrive

  She was diagnosed with severe gastro-esophageal reflux which caused several episodes of aspiration pneumonia and failure to thrive. She died at the age of three months from pneumonia and sepsis. [cags.org.ae]

  Also she had a gtube placed due to failure to thrive. Holly spent the first 9 months of her life in NICU at Kosiars Childrens Hospital in Louisville, Ky. At 4 years of age she had her trach and gtube removed and did awesome for 4yrs. [escobarsyndrome.blogspot.com]

  She also carried a posterior cleft palate and neonatal failure to thrive that led to gastrostomy. Facial features included ptosis, low set ears and short neck. A simple sacral dimple was noted, and spinal cord was low set (L2–L3; Figure 3). [nature.com]

• Receding Chin

  Abnormalities of the head usually consist of epicanthal microcephaly, skin folds, long philtrum, antimongoloid palpebral slant, low-set ears, pointed and receding chin, ptosis, down-turned angles of the mouth, cleft lip and palate, and hemangiomas of [whonamedit.com]

  She had a pear shaped head, elongated face, a ridged metopic suture, low set ears, high arched eyebrows, right upper lid ptosis, relative left proptosis, hypoplastic maxilla, receding chin, a small pursed mouth which could not be opened wide to reveal [cags.org.ae]

• 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. [karger.com]

• 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]

• Joint Limitation

  Several additional manifestations have been described including cleft palate, sensorineural or mixed hearing loss, joint limitations, clinodactyly and enamel hypoplasia. [nature.com]

• Hearing Impairment

  Variable features include hip dislocation, patellar dislocation, talipes equinovarus, hearing impairment, scoliosis and limitation in elbow joint movements. 3, 5 Type of DA Clinical features Intelligence Synonyms Inheritance Genes DA type 1 (1A & 1B) [iamg.in]

• Fear

  All of the orthopedic stuff is something we live with daily and don't get me wrong, it can get very trying at times, but the fear of death from the lung issues brings us much more stress than the orthopedic side of Escobar. [escobarsyndrome.blogspot.com]

  Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet 2006; 79 :342–350. 50. Steinlein OK, Mulley JC, Propping P, et al. [nature.com]

• 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]

• Widely Spaced Nipples

  spaced nipples Neurologic Abnormality Failed fusion of posterior neural arches Skeletal Abnormal ossicles Abnormality of ribs Absent or dysplastic patella Anterior clefts of vertebral bodies Distal radioulnar separation Fusion of vertebrae or fused laminae [datagenno.com]

• Irritability

  Per abdominal examination showed an irritable uterus of 28-week size with breech presentation. On p/v, os was closed with no show. [jfmpc.com]

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. 1997;68(1):82–5. Google Scholar Moessinger AC. Fetal akinesia deformation sequence: an animal model. [bmcmusculoskeletdisord.biomedcentral.com]

Clinical Testing and Workup X-rays (radiographs) of the spine can show characteristic changes to the spine and ribs that characterized spondylocostal dysplasia. [rarediseases.org]

J Med Genet 34: 582–586 PubMed Google Scholar Froster UG, Stallmach T, Wisser J et al. (1997) Lethal multiple pterygium. syndrome: Suggestion for a consistent pathological workup and review of reported cases. [link.springer.com]

• Pleural Effusion

  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]

  Examination of the chest revealed bilateral pleural effusions [Figure - 2]. Abdominal viscera were unremarkable and there was no ascites. Fetal extremities were in a fixed flexed position. [ijri.org]

  Prenatal ultrasound examination at 18 weeks of gestation revealed cystic hygroma, pleural effusion and ascites compatible with hydrops fetalis. [bmcmusculoskeletdisord.biomedcentral.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]

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

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]

Examines the initial clinical approach to suspected deformation problems, and then walks you through pathogenesis, diagnostic features, management, prognosis, and counseling for each condition. [books.google.de]

(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]

Prognosis Prognosis depends on the underlying cause but most have a normal lifespan. If, however, there is a central nervous system problem in addition, about half of patients die in the first year. [patient.info]

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]

Based on the extent of joint involvement (proximal and/or distal joints), neurological involvement, and involvement of other parts of the body/other organs the etiology and prognosis of arthrogryposis differs. 1 Various etiologies of arthrogryposis include [iamg.in]

From Etiology see pathology Pathology nonlethal form of arthrogryposis multiplex congenita congenital contractures may be caused by reduced fetal movements at sensitive times of development possible causes of decreased fetal mobility include space constraints [anvita.info]

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]

[…] cryptorchidism, joint contractures, fetal akinesia, cardiac defects, kyphoscoliosis, fetal growth restriction, and intestinal malrotation. [1], [2] The mode of inheritance can be either autosomal recessive, autosomal dominant, or X-linked dominant. [1] The exact etiology [jfmpc.com]

(Etiology) Mutations in the CHRNG gene are said to cause the development of Multiple Pterygium Syndrome. [dovemed.com]

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [Medline]. Hall JG. [medscape.com]

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]

Relevant External Links for CHRNG Genetic Association Database (GAD) CHRNG Human Genome Epidemiology (HuGE) Navigator CHRNG Atlas of Genetics and Cytogenetics in Oncology and Haematology: CHRNG No data available for Genatlas for CHRNG Gene Escobar syndrome [genecards.org]

Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. [pubmed.ncbi.nlm.nih.gov]

Epidemiology It may occur to some extent in 1 in 3,000 to 1 in 5,000 live births. [ 3 ] The condition is usually detected at birth or before by ultrasound examination. It is often secondary to other conditions. [patient.info]

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]

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]

For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases. [orphananesthesia.eu]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [archpedi.jamanetwork.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]

Treatment of equinus deformity is required to prevent recurrence. Aggressive treatments should be avoided to prevent disruption of ambulation. [omicsonline.org]

Typically, mutations that prevent the production of any γ subunit will result in the lethal type, while mutations that allow the production of some γ subunit will lead to the Escobar type. [ghr.nlm.nih.gov]