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Maternal mirror syndrome House

The patient has maternal mirror syndrome. A fetus in distress can kill the mother, but treating the fetus will cure the mother. It's difficult to diagnose the problem, although there are only a few things that cause mirror syndrome and they're all treatable. House suggests paralyzing the fetus to take a better MRI House now believes that there is a problem with the fetus; maternal mirror syndrome. They find a blockage in the fetus's ureter and the urine reveals the kidneys are functioning properly. Shortly after, Emma gets jaundice meaning her liver is shutting down. Cuddy overdoses Emma on corticosteroids to develop the baby's lungs faster April 5, 2007 (LifeSiteNews.com) - A dramatic episode of the popular evening television drama, House, that shows an unborn child, from an opened womb, grasping a surgeon's finger during surgery,.. Objective: To investigate clinical features of mirror syndrome. Methods: We retrospectively reviewed 71 cases of fetal hydrops with or without mirror syndrome, and compared with respect to maternal age, the body mass index, the primipara rate, the gestational age at delivery, the timing of fetal hydrops onset, the severity of fetal edema, placental swelling, the laboratory data and the fetal. Mirror syndrome (MS) is a rare complication of fetal hydrops appearing as a triple edema (fetal, placental as well as maternal) [ 1 ], in which the mother mirrors the hydropic fetus. This syndrome was first described in 1892 by the Scottish obstetrician John William Ballantyne [ 2 ]

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  1. ate all possible causes.House decides it is maternal mirror syndrome and there is something wrong with the fetus
  2. Dr. Gregory House : Maternal Mirror Syndrome has one surefire cure
  3. Maternal mirror syndrome (Emma) 3 17.2 Congenital cystic adenomatoid malformation (Emma's baby) 3 18.1 Decompression sickness (Peng), 3 18.2 Methyl bromide poisoning (Fran) 3 18.3 Conversion disorder (Other passengers) 3 19 Precocious puberty due to externally applied testosterone 3 20 Staphylococcus aureus infection 3 21 Histoplasmosis 3 22.
  4. It is true that full-blown narcissists are unlikely to change, but the adult child can do his or her own internal work for recovery. That said, the six faces of maternal narcissism are identified.
  5. Mirror syndrome could refer to: Maternal mirror syndrome, as seen in Fetal Position. Giovannini Mirror Syndrome, as seen in Mirror Mirror ; House thinks it is Giovannini Mirror Syndrome, a disease where the brain picks up clues from the surroundings because the patient has brain damage and has no sense of self
  6. Mirror syndrome or triple edema or Ballantyne syndrome is a rare disorder affecting pregnant women. It describes the unusual association of fetal and placental hydrops with maternal preeclampsia. The name mirror syndrome refers to the similarity between maternal edema and fetal hydrops. It was first described in 1892 by John William.
  7. Yea, thats maternal mirror syndrome which has already been mentioned in the 17th episode of House (Fetal Position). 128.227.82.216 17:30, 1 November 2007 (UTC) I can't find any confirmation that this syndrome is real. Practically every link if you google Giovannini's mirror syndrome is to a synopsis of this episode

mirror syndrome fetal hydrops Childbearing PosterPresentation Background Mirror syndrome is a rare, potentially life-threatening obstetric complication charac-terized by the development of maternal edema, hypertension, and proteinuria in association with fetal hydrops. Hydrops is diagnosed when there is accumulation of fluid in at least two. When Emma's kidneys start to shut down and all diagnostic possibilities have been exhausted, House comes up with the solution: maternal mirror syndrome. Something's wrong with the fetus, and that's affecting the mother's health

House convenes his team in the office and explains Maternal Mirror Syndrome to them. In short, the creation of a new system inside a functioning body goes wrong. As the fetus slowly dies, rather.. The team consider all manner of suggestions until House comes to the conclusion that it is maternal mirror syndrome, a condition in which a perfectly healthy mother adopts the symptoms of her unborn child House M.D. Fetal Position (TV Episode 2007) Hugh Laurie as Dr. Gregory House Who can forget the nun who appeared to have stigmata but turned out to be allergic to copper or the woman with maternal mirror syndrome or the man who wept blood? I could go on Intriguing as the symptoms and diagnoses on House may be, it is the universal questions that the programme asks that, for me, explain its appeal. At the heart of the.

mirror syndrome Obstetrics A rare condition characterised by foetal and placental hydrops and maternal pre-eclampsia. Aetiology Obstetrical problems including Rh incompatibility, metabolic disease, foetal infection and foetal malformations; possibly linked to high-output cardiac failure in the mother; possibly due to the release of hormones or vasoactive substances by the placenta If the fetus develops hydrops, you may mirror your baby's illness. If you are carrying a baby diagnosed with CCAM/CPAM, your pregnancy must be carefully monitored for high blood pressure and other signs and symptoms of the maternal mirror syndrome, or preeclampsia. Blood pressure and urine tests can monitor for signs of preeclampsia House (season 3) House. (season 3) The third season of House (also called House, M.D.) ran on FOX from September 5, 2006 to May 29, 2007. Early in the season, House temporarily regains the use of his leg due to ketamine treatment after he was shot in the season two finale. Later in the season, he leaves a stubborn patient in an exam room with a.

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The mother's health can also be jeopardized through what is called maternal mirror syndrome, in which the mother's condition mirrors that of the sick baby. Coming to CHOP Meredith went to the Center for Fetal Diagnosis and Treatment for what she calls a marathon day of testing with advanced ultrasound, a fetal echocardiogram and MRI imaging The fetus is the episode's focus, via Maternal Mirror Syndrome, i.e. the fetus is causing the problem, it's sick, the mother is sick as a result, the fetus is in position to kill its mother. When House comes back after Cuddy pushed him away for not being on the fetus' side, he goes forward with open fetal surgery, putting the fetus' position in.

House convenes his team in the office and explains Maternal Mirror Syndrome to them. In short, the creation of a new system inside a functioning body goes wrong. As the fetus slowly dies, rather than miscarry or become a stillbirth, it kills the mother's body as well As a result of this maternal mirroring, a daughter develops a strong identity, becomes self-assured, and is eager to take on the world. Without a maternal mirror, daughters grow up feeling unseen and misunderstood. As a result, they're more likely to suffer from low self-esteem and a high degree of self-doubt *Mirror Syndrome: A rare, potentially life-threatening, condition in pregnancy, defined by the presence of the clinical triad of fetal hydrops, placentomegaly, and maternal edema. (Mathias & Rizvi, 2019) Questions. What surprised you about Fatima and her husband Ahmad's actions in this scenario

Clinical characteristics of mirror syndrome: a comparison

Resolution of maternal Mirror syndrome after succesful

House MD Episodes: Season 3 #317 Fetal Positio

  1. Final diagnosis: MERRF syndrome 54: 8 Whac-A-Mole Daniel Sackheim: Pamela Davis: November 21, 2006 (2006-11-21): 15.20: House's newest patient is 18-year-old Jack (Patrick Fugit), brought to the hospital after experiencing a heart attack and massive vomiting.Jack has been the sole parent to his younger brother and sister since their parents died
  2. toring for maternal mirror syndrome. At 23weeks' and 3 days of gestation, fetal movements were reduced, and contractures of both wrists and feet were identied. Ace-tylcholine receptor antibodies and IgG subsets were nor-mal. At 25weeks' and 3 days of gestation this progressed to bilateral talipes and persistent arm exion. ere wa
  3. istered, and in one case chest compressions and code medications were.
  4. As her health continues to deteriorate, Emma is more concerned about her baby's well-being than her own. With no other viable explanation for the kidney failure, House realizes Emma may have a rare condition called Maternal Mirror Syndrome, in which the mother's health mimics the distress level of her fetus
  5. Maternal Mirror Syndrome - Emma, Non-immune hydrops fetalis - Emma's baby: House treats a pregnant photographer whose baby may kill her. 64 (3-18) Airborne David Hoselton: Elodie Keene: 10 अप्रैल, 2007: The Bends - Peng, Mass hysteria - Passengers, Methyl bromide poisoning - Fra
  6. Lisonkova S, Razaz N, Sabr Y, et al. Maternal risk factors and adverse birth outcomes associated with HELLP syndrome: a population-based study. BJOG 2020;127(10):1189-98. doi: 10.1111/1471-0528.16225 [published Online First: 2020/03/20

House M.D. Fetal Position (TV Episode 2007) - Jennifer ..

This may also cause Ballantyne syndrome (maternal mirror syndrome), which is a dangerous maternal complication. 2. SCT compresses the abdominal and thoracic organs, leading to polyhydramnios (oesophageal and gastric compression) inducing uterine irritability, premature rupture of the membranes (PPROM) and preterm delivery House: In that case, consider a forty year old woman who is twenty-one weeks pregnant. After suffering a stroke, her kidneys and liver begin to shut down. My team and I determined that the patient was experiencing maternal mirror syndrome, in which lesions on the lungs of the fetu The immune dysregulation-polyendocrinopathy-enteropathy x-linked (IPEX) syndrome is a primary immunodeficiency caused by variants in the FOXP3 gene [1, 2]. FOXP3 is a key control gene, which encodes a transcription factor regulating the development and function of regulatory T Cells (Tregs) [].Tregs are responsible for maintaining tolerance to self-antigens by suppressing the activity of. The U.S. maternal mortality rate may fail to mirror rates of like countries because of persistent and considerable racial disparities in reproductive health outcomes. In the United States, between 2011 and 2015, the maternal mortality rate for non-Hispanic Black women was approximately 43 per 100,000 live births

List of diagnoses from House (TV series) - EverybodyWiki

The disorder gets its name because the mother suffers the same symptoms as the sick fetus. She will become ill and have signs of preeclampsia: water retention, high blood pressure and protein in the urine. When this happens, doctors monitor the mother for maternal mirror syndrome. The syndrome is dangerous for both the expectant mother and her. Maternal mirror syndrome (Emma) At Cameron's urging, the team takes the case of a suicidal man who suffers from excruciating chronic pain--pain that mirrors House's. Meanwhile, Cuddy discovers that caring for her new foster baby leaves her little time to run the hospital; and Foreman and Thirteen continue to explore their complicated. A Case of Alloimmune Thrombocytopenia, Hemorrhagic Anemia-Induced Fetal Hydrops, Maternal Mirror Syndrome, and Human Chorionic Gonadotropin-Induced Thyrotoxicosis Article Full-text availabl After decades of decline, the maternal mortality rate in the United States has increased over the last 10 years. According to the Centers for Disease Control and Prevention (CDC), between 800 and 900 women in the United States die each year from pregnancy-related complications, illnesses or events. In 2018, the U.S. maternal mortality rate (MMR)—the rate the CDC defines as the number of.

The Six Faces of Maternal Narcissism Psychology Toda

  1. cause the maternal mirror syndrome (discussed later), which is a threat to maternal health, the mother must bear significant potential risk and discomfort from the fetal surgical procedure. Maternal safety is the paramount issue. Fortunately, there have been no maternal deaths after open fetal surgery and few maternal complications
  2. Mirror syndrome (first described in 1892) is another term for what is also known as Ballantyne Syndrome or triple edema. Maternal mirror syndrome is a rare consequence of fetal hydrops. By convention, delivery is
  3. Bell's palsy is a form of severe facial muscle weakness or paralysis that results from facial nerve swelling or damage. The Condition can strike at any age, and it can affect both men and women . Additionally, Bell's palsy is the most common cause of facial paralysis during pregnancy
  4. 6.2 Prenatal surgical repair of MMC in patients who have one or more of the following: • Fetal anomaly unrelated to MMC. • Severe kyphosis. • Risk of pre-term birth (e.g., short cervix or previous pre-term birth). • Maternal body mass index of 35 or more. 6.3 The in-utero repair for aqueductal stenosis (HCPCS S2409) and procedures.
  5. It was time to divulge his secret to the team, maybe with one of his world famous metaphors. Welcome to the world of maternal mirror syndrome he said, as he started writing it down on his trusty whiteboard. Imagine Mum's body is like an intricate German metro system. All the trains run on time

Giovannini Mirror Syndrome House gio

6.1 The in-utero surgical repair of myelomeningocele in patients who have one or more of the following: • Fetal anomaly unrelated to myelomeningocele. • Severe kyphosis. • Risk of pre-term birth (e.g., short cervix or previous pre-term birth). • Maternal body mass index of 35 or more. 6.2 The in-utero repair for aqueductal stenosis. The third season of House (also called House, M.D.) ran on FOX from September 5, 2006 to May 29, 2007. Early in the season, House temporarily regains the use of his leg due to ketamine treatment after he was shot in the season two finale. Later in the season, he leaves a stubborn patient in an exa Maternal Passive Immunity synonyms, Maternal Passive Immunity pronunciation, Maternal Passive Immunity translation, English dictionary definition of Maternal Passive Immunity. n. Immunity acquired by the transfer of antibodies from another individual, as through injection or placental transfer to a fetus. passive immunization n... Cytogenetic Analysis of Down Syndrome in Gujarat Frenny Sheth, Subhada Rao, Manisha Desai, Jigna Vin and Jayesh Sheth From the FRIGE House (Foundation for Research in Genetics and Endocrinology), Genetic Center, 15, Kapidwaj, Jodhpur Gam Road, Satellite, Ahmedabad 380 015, India

Maternal mirror syndrome has one surefire cure. למיימת אימהית יש מרפא אחד said smudging is a surefire way to get rid of evil spirits in a house. אמר שהדלקת קטורת זאת דרך. It also decreases the risk of many health problems such as acute diarrhea, respiratory illness, asthma, sudden infant death syndrome, and obesity. As an architect, however, York understood that historic ways of designing and building may protect young children—the code-specified 4 maximum spacing between railings keeps small bodies from. While 61% of live births with Down syndrome are conceived by women under the age of 35 (Egan et al. 2011) with an average maternal age of 31.5 (Hassold and Sherman 2000), advanced maternal age is the most significant risk factor for Down syndrome

An introduction to Mirror Syndrome - Pregnancy i

Jonathan Adler (left) and Simon Doonan with their Norwich terrier, Liberace, on the dining terrace of their Shelter Island, New York, home; the hanging lamp is vintage George Nelson, the vase is. Introduction. The phenomenon of burnout refers to a specific syndrome of exhaustion related to prolonged situations of emotional imbalance, where the burden of perceived stress exceeds personal resources to cope with it. While the phenomenon of professional burnout, which was described by Freudenberger (1974) to define a syndrome of exhaustion related to working conditions, is nowadays well. Medical student syndrome is a well-known phenomenon, often treated derisively by classmates and colleagues once it's acknowledged. I remember deans and attending physicians warning about it during medical school, often relating stories of their own occurrences of the condition or even more absurd-sounding delusions of their classmates It is the largest private grant ever made to the research of Angelman Syndrome - a neuro-genetic disorder in which the person affected is missing a functional gene on the maternal 15th chromosome

Narcissism is a spectrum disorder, with the most severe end of the spectrum considered as narcissistic personality disorder. A woman can have several narcissistic traits and not fit the. r/HouseMD: House, an acerbic infectious disease specialist, solves medical puzzles with the help of a team of young diagnosticians. Flawless Eventually my mother got her way, as she often does. Maternal watchfulness triumphed over protocol, and she rode in the passenger seat of the ambulance to the hospital, talking to and reassuring an increasingly sick Jenna through the rearview mirror the whole way there. When they got to the hospital the conflict of wills intensified Christine is a Psychotherapist, Educator, Author and Supervisor of mental health professionals for over 28 years. She was part of a team in the Trauma Unit of St. Brendan's Psychiatric Hospital, Dublin, and has worked specifically with victims of pathological narcissistic abuse in her private practice for many years In a minority of cases of congenital neuroblastoma with placental involvement, maternal mirror syndrome due to feto‐placental hydrops may occur 8 . The main sonographic feature reported is non‐specific increased placental thickness 8 , 60 , 112-116 , but overall these lesions have only exceptionally been diagnosed antenatally

Talk:Mirror Mirror (House) - Wikipedi

  1. The diagnosis for Marianna, then 14, was Parry-Romberg syndrome, a rare condition that occurs in about 1 in 700,000 adolescents. It had nothing to do with an errant baseball bat. Her brother was happily off the hook. The best part was, it was fixable. Parry-Romberg is a condition that causes progressive shrinking of the soft tissues of one.
  2. Facebook/Williams Syndrome Smile. Source: Facebook/Williams Syndrome Smile. Williams syndrome is a genetic condition that can affect anyone. It is caused by the spontaneous deletion of 26-28 genes on chromosome #7. It is likely that elastin gene deletion accounts for many of the physical features of Williams syndrome
  3. also receive treatment for that condition. For example, antibiotics are used to treat a syphilis infection.Women whose babies have hydrops fetalis are at a risk of another condition known as mirror syndrome. Mirror syndrome can result in life-threatening hypertension (high blood pressures) or seizures. If you develop mirror syndrome, you'll.
  4. syndrome that is caused by loss of brain function. It has a gradual onset and is a progressive disease that becomes worse with time. The neuropathology (abnormal changes in the brain) associated with Alzheimer´s disease appears in the fifth and sixth decade of life, many years before the onset of symptoms
  5. Define maternal neglect. maternal neglect synonyms, maternal neglect pronunciation, maternal neglect translation, English dictionary definition of maternal neglect. adj. 1. Relating to or characteristic of a mother or motherhood; motherly: maternal instinct
  6. Monica's mother has an impressive bloodline as well. Much of her maternal bloodlines are Woodville European bloodlines from UK, France, Ireland, Czech Republic. Champion Legacy Windchester, Champion Legacy Mirror Image Row-Sand, and Champion Legacy Mystic Minuet. Monica is a beautiful Black and Tan weighing around 18lbs
  7. Despite this, maternal depression was identified as a potential predictor of child maltreat ment, and support was provided for previous research that identified the role of social support as a potentially protective factor against child maltreatment (for example, HREOC 1993). Munchausen's Syndrome by Prox

Mirror Syndrome: A Rare, Potentially Life-Threatenin

  1. 17. Fetal Position (April 3, 2007) Maternal mirror syndrome from Non-immune hydrops fetalis due to Congenital cystic adenomatoid malformation. 18. Airborne (April 10, 2007) (1) Methyl bromide poisoning, (2) Decompression sickness. 19. Act Your Age (April 17, 2007) Exposure to testosterone causing precocious puberty. 20
  2. 63 (3-17) Fetal Position Matt Shakman Russel Friend & Garrett Lerner April 3, 2007 Maternal mirror syndrome (Emma), Congenital cystic adenomatoid malformation (Emma's baby) 64 (3-18) Airborne Elodie Keene David Hoselton April 10, 2007 Decompression sickness (Peng), Methyl bromide poisoning (Fran), Mass hysteria (Other passengers
  3. When you assume the image in the Mirror Stage, you aren't just LIKE the image - you become it. (Crucially linked is the seed of how you will respond, set first in the maternal mirror). In reaching the Mirror Stage, you realise that you're human, you're like your family, but also very different. Starting to compare and contrast. Disappointment
  4. The presenter was curious to discover at what age men become grumpy and if grumpiness is confined to older men. Recent research states that more men suffer from 'Grumpy Old Man' syndrome when they hit 70. There are good reasons to believe this to be the case. Seventy is an age when men may become more aware of their own mortality as they.
  5. Fragile x syndrome definition, a widespread form of mental retardation caused by a faulty gene on the X chromosome. See more
  6. The title of this post is a bit strong, but I do want to caution people from adopting two dogs from the same litter because it's easier to raise two at once (ask someone with twins if it's easier than having one child) or we don't want our dog to be lonely. (Because you might be if the dogs are so enchanted with each other that they ignore you)

Unified Theory of Nothing Much: TV Review: House - Fetal

In most cases however, such mirror syndrome cases warrant prompt delivery in the maternal interest. What is hydrops in a fetus? Hydrops fetalis (fetal hydrops) is a serious fetal condition defined as abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema Other factors may affect the Down syndrome birth frequency, such as changes in maternal age distribution, availability of abortion, and access to health insurance. For example, in the highly unlikely event that every woman 35 and older refrained from pregnancy, the birth frequency of Down syndrome in the US and many Western European countries. User Account. Log in; Register; Help; Take a Tour; Sign up for a free trial; Subscrib Barnett, who was a few years older than Arthur, was the son of his maternal uncle, Harry. At a time when babies with Down syndrome were almost always institutionalized, Barnett was raised at home.

Syndrome de Goldenhar... • Troubles de la déglutition ( difficulté à avaler ) ou malformation de la luette • Ensemble de malformations comprenant : - Asymétrie 3-я хромосома человека... 2 ]• кавернозная ангиома ( англ Shawaf et al. (1995) proposed that this is a new syndrome. Haddad et al. (2001) reported the same constellation of features in 4 sisters of a presumably unrelated Lebanese-Druze family. That this syndrome is distinct was apparently corroborated by the identification of a third presumably unrelated family One or more maternal echocardiogram studies may be required for other cardiac conditions. If antihypertensive medications need to be titrated by the cardiologist due to elevated blood pressures, virtual encounters should be conducted weekly until blood pressures are under control, at which point visits with the cardiologist can be spaced out. Angelman Syndrome is a neurogenetic disorder in which the person affected is missing a functional gene on the maternal 15th chromosome. The condition results in balance issues and motor impairment. Among the numerous consequences of prenatal alcohol exposure (PAE) is an increase in anxiety-like behavior that can prove debilitating to daily functioning. A significant body of literature has linked gestational day 12 (G12) heavy ethanol exposure with social anxiety, evident in adolescent males and females. However, the association between non-social anxiety-like behavior and moderate.

Home; Books; Search; Support. How-To Tutorials; Suggestions; Machine Translation Editions; Noahs Archive Project; About Us. Terms and Conditions; Get Published. مطمئن translation in Persian-English dictionary. Showing page 1. Found 233 sentences matching phrase مطمئن.Found in 3 ms The flashbacks to the previous times Luz was sent to the Principal's Office.. One of those times was her art project was a gryphon with a pigeon head that breathes spiders. While she's flying on Eda's broomstick, she sees a humongous gryphon with a pigeon head that breathes spiders 1 hereditary succession to an estate or title. 2 the right of an heir to succeed to property on the death of an ancestor. 3 something that may legally be transmitted to an heir. INHERITANCE, estates. A perpetuity in lands to a man and his heirs; or it is the right to succeed to the estate of a person who died intestate

House M.D. Episode 3.17 Fetal Position Episode Guide ..

Oedema definition: an excessive accumulation of serous fluid in the intercellular spaces of tissue | Meaning, pronunciation, translations and example Category filter: Show All (41)Most Common (0)Technology (7)Government & Military (5)Science & Medicine (7)Business (12)Organizations (12)Slang / Jargon (6) Acronym Definition MGP Mathematics Genealogy Project (North Dakota State University) MGP Melodi Grand Prix (annual music competiton; Norway) MGP Manufactured Gas Plant MGP Marina de Guerra del Peru. Background Russell Silver syndrome (RSS) leads to prenatal and postnatal growth retardation. About 55% of RSS patients present a loss-of-methylation of the paternal ICR1 domain on chromosome 11p15. CDKN1C is a cell proliferation inhibitor encoded by an imprinted gene in the 11p15 ICR2 domain. CDKN1C mutations lead to Beckwith Wiedemann syndrome (BWS, overgrowth syndrome) and in IMAGe syndrome. Category filter: Show All (32)Most Common (0)Technology (2)Government & Military (6)Science & Medicine (8)Business (6)Organizations (10)Slang / Jargon (5) Acronym Definition MHR Ministry of Human Rights (various locations) MHR McGraw-Hill Ryerson (Canadian publisher) MHR Maximum Heart Rate MHR Mid-Hants Railway (heritage railway; Hampshire, UK) MHR. Maternal Mortality Review - Each Death Matters. The United States is one of few industrialized countries where maternal death rates are rising.1 Rates of maternal mortality in the United States are also higher among certain groups than others, including African-American women, who are three to four times more likely to die during pregnancy or childbirth than are White women.2 Sadly, the vast.

Maternal mirror syndrome definition of Maternal mirror

16. Now what peculiarly signalizes the situation of woman is that she — a free and authentic being like all human creatures — nevertheless finds herself living in a world where men compel her to assume the status of the Other. Simone de Beauvoire, The Second Sex (New York: Vintage, 1974), p. XXXIII. Google Scholar Chromosome 4q deletion syndrome is a genetic disease resulting from a chromosomal aberration that causes the missing of a portion of chromosome four long arm (Strehle and Bantock, 2003). Patients have a spectrum of clinical manifestations including craniofacial, cardiovascular, and gastrointestinal abnormalities, and mental and growth. By whole-exome sequencing in a male proband with TARP syndrome (TARPS; 311900), who had an initial tentative diagnosis of atypical orofaciodigital syndrome, Johnston et al. (2014) identified a c.448C-T transition (c.448C-T, NM_005676.4) in the RBM10 gene, resulting in a gln150-to-ter (Q150X) substitution. X-chromosome inactivation studies showed absence of skewing in maternal DNA