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]

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]

Clinical description LMPS is characterised by growth deficiency of prenatal onset, pterygia present in multiple areas (chin to sternum, cervical, axillary, humero-ulnar, crural, popliteal, and the ankles) and flexion contractures giving rise to severe [orpha.net]

• 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]

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hypoplasia of penis Underdeveloped penis 0008736 Inguinal hernia 0000023 Long philtrum 0000343 Low posterior hairline [rarediseases.info.nih.gov]

  Holly had a diaphragmatic eventration at birth and due to that she had a trach placed at birth because of respiratory failure. It took 2 surgeries to correct it. Also she had a gtube placed due to failure to thrive. [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]

• Spine Stiffness

  […] and cervical spine fusion. [ijaweb.org]

• Hearing Impairment

  Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cryptorchidism Undescended [rarediseases.info.nih.gov]

  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]

• 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]

• Depressed Nasal Bridge

  Within a week, the patient went into spontaneous labor with delivery of 1.4 kg female still born with a large cystic hygroma, depressed nasal bridge, low-set ears with malformation of pinna, cleft lip with partial cleft palate, and bilateral rocker bottom [jfmpc.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]

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]

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]

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]

KEYWORDS: Escobar syndrome; Multiple pterygium syndrome; congenital scoliosis; non-lethal type; surgical treatment [Indexed for MEDLINE] Free full text [ncbi.nlm.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]

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

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]

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]

[…] 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]

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]

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]

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]

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]

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]

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]

Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. ‎ Pagina 332 - Crane JP, LeFevre ML, Winborn RC, et al. [books.google.ro]