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Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges. The typical features of CdLS include thick or long eyebrows, a small nose, small stature, developmental delay, long or smooth philtrum, thin upper lip and downturned mouth. The syndrome is named after Dutch pediatrician Cornelia Catharina de Lange, who described it in 1933. It is often termed Brachmann de Lange syndrome or Bushy syndrome and is also known as Amsterdam dwarfism. Its exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000. Signs and symptoms The phenotype of CdLS is highly varied and is described as a spectrum; from Classic CdLS (with a greater number of key features) to mild variations with only a few features. Some people will have a small number of features but do not have CdLS. Key features: Long and/or thick eyebrows Short nose Concave nasal ridge and/or upturned nasal tip Long and/or smooth philtrum Thin upper lip vermilion and/or downturned corners of mouth Missing fingers or toes Congenital diaphragmatic hernia Other suggestive features: Developmental delay or intellectual disability Small prenatal and birth size or weight Small stature Microcephaly (prenatally or postnatally) Small hands or feet Short fifth finger Hirsutism The following health conditions are more common in people with CdLS than in the general population. Respiratory illness Heart defects (e.g., pulmonary stenosis, VSD, ASD, coarctation of the aorta) Hearing impairment Vision abnormalities (e.g., ptosis, nystagmus, high myopia, hypertropia) Partial joining of the second and third toes Incurved fifth fingers (clinodactyly) Gastroesophageal reflux Gastrointestinal abnormalities Musculoskeletal problems Scoliosis Social anxiety Seizures Cleft palate Feeding problems Children with this syndrome are often found to have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Body hair can be excessive and affected individuals are often shorter than their immediate family members. They present a characteristic facial phenotype. Children with CdLS often have gastrointestinal tract difficulties, particularly gastroesophageal reflux. Vomiting, intermittent poor appetite, constipation, diarrhea or gaseous distention are known to be a regularity in cases where the GI tract problems are acute. Symptoms may range from mild to severe. People with CdLS may exhibit behaviours that have been described as "autistic-like," including self-stimulation, aggression, self-injury or strong preference to a structured routine. Behavior problems in CdLS are not inevitable. Many behaviour issues associated with CdLS are reactive (i.e., something happens within the person's body or environment to bring on the behavior) and cyclical (comes and goes). Often, an underlying medical issue, pain, social anxiety, environmental or caregiver stress can be associated with a change in behaviour. If pain or a medical issue is the cause, once treated, the behaviour diminishes. There is evidence for some features of premature aging including the early development of Barrett's esophagus, osteoporosis present in the teenage years, premature greying of hair and some changes to the skin of the face causing a more aged appearance compared to chronological age. Causes The vast majority of cases are thought to be due to spontaneous genetic mutations. It can be associated with mutations affecting the cohesin complex. As of 2018, it was confirmed that 500 genetic mutations have been associated with the condition, occurring on seven different genes. In around 30% of cases of CdLS the genetic cause remains undiscovered. The wide variation in phenotype is attributed to a high degree of somatic mosaicism in CdLS as well as the different genes and type of mutations. For this reason people with CdLS can have very different appearance, abilities, and associated health issues. Missense mutations in the latter two genes seem to correlate with a milder form of the syndrome. In 2004, researchers at the Children's Hospital of Philadelphia (United States) and the University of Newcastle upon Tyne (England) identified a gene (NIPBL) on chromosome 5 that causes CdLS when it is mutated. Since then, additional genes have been found (SMC1A, SMC3 and HDAC8, RAD21) that cause CdLS when changed. In July 2012, the fourth "CdLS gene"—HDAC8—was announced. HDAC8 is an X-linked gene, meaning it is located on the X chromosome. Individuals with CdLS who have the gene change in HDAC8 make up just a small portion of all people with CdLS. Evidence of a linkage at chromosome 3q26.3 is mixed. Genetic alterations associated with CdLS have been identified in genes NIPBL, SMC1A and SMC3 as well as the more recently identified genes RAD21 and HDAC8. All of these genetic alterations occurring in CdLS patients affect proteins that function in the cohesin pathway. SMC1A, SMC3 and RAD21 proteins are structural components of the cohesin ring complex. NIPBL is involved in the loading of the cohesin ring onto chromosomes, and HDAC8 deacylates SMC3 to facilitate its function. The cohesin pathway is involved in cohesion of sister chromatids during mitosis, DNA repair, chromosome segregation and the regulation of developmental gene expression. Defects in these functions are theorised to underlie some of the features of CdLS. In particular, defective DNA repair may underlie the features of premature aging. Diagnosis The diagnosis of CdLS is primarily based on clinical findings by a clinical geneticist, and in some cases may be confirmed through laboratory testing. Treatment Often, an interdisciplinary approach is recommended to treat the issues associated with CdLS. A team for promoting the child's well-being often includes speech, occupational and physical therapists, teachers, physicians, and parents. Cornelia de Lange syndrome (CdLS) affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. It may include: Supplemental formulas and/or gastrostomy tube placement to meet nutritional needs and improve the growth delay, Ongoing physical, occupational, and speech therapies, Surgery to treat skeletal abnormalities, gastrointestinal problems, congenital heart defects and other health problems, and, Medications to prevent or control seizures. Research into CdLS is ongoing. History The first documented case was in 1916 by Winfried Robert Clemens Brachmann (1888-1969), a German physician who wrote about the distinct features of the disease from his 19-day-old patient. Walther Johann Brachmann was qualified in medicine in 1913 and obtained an appointment as a.... Discover the D K Lange popular books. Find the top 100 most popular D K Lange books.
Best Seller D K Lange Books of 2024
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Whiskey Girl
Melissa BelleThey'll do anything for each other…except commit. Logan Wild isn’t just the hottest broncriding cowboy in Texas. He’s also my best friendwith benefits. And that’s all we’ll ev...
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Awaken Me
Jenna JacobHe was more than a ghost haunting my dreams…he was real. By day, I’m Julianna Garrett …a prim, proper accountant. By night, I’m tormented by dreams of an alpha, ambereyed Adonis wh...
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Teased by Fire
Molly O'HareFrom USA Today bestselling author Molly O’Hare comes an enemiestolovers, older brother’s best friend, romantic comedy with a curvy, antisocial, supernaturalobsessed, allyearround h...
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The Art of War
Sun TzuAn Apple Books Classic edition. It’s believed that Sun Tzu wrote this Chinese military primer during the 5th century BChundreds of years before the Bible. The book’s 13 chapters ex...
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Hard Love
Peyton BanksHe was football royalty. Legendary quarterback. A champion.  Reiner Strickland had led his team to three national championships and playing a knight in shining armor was a...
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Peace on Earth
Maia RossCrime never takes a holiday. Why should Irma? Irma Abercrombie is an energetic retiree with a shadowy past, a mean right hook, and a profound love of Christmas. Surrounded by seaso...
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The Scarlet Letter
Nathaniel HawthorneAn Apple Books Classic edition. Hester Prynne lives in infamy. After committing adultery and bearing a child with a man whose name she refuses to divulge, the heroine of Nathaniel ...
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The Icing on the Cake
Linda SeedShe’s a baker without a kitchen. He’s got a double oven to spare. It’s a recipe for success, until his mother starts stirring up trouble … Cassie Jordan has a sweet dream to open a...
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The Honeymoon Homicide
J. R. Mathis & Susan MathisEnjoy this SmallTown Murder Mystery Featuring A Unique Sleuthing Couple I'm Father Tom Greer, a Catholic Priest in a smalltown parish who never expected this . . . When I came...
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Never Enough
Lexy TimmsBe good enough never is... Anthony Accardi is a man on a mission: make his father's watch company a success while bringing in millions of dollars. To do that, he needs an assi...
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Assisting the Bosshole
Kristin MacQueenNo hot water? Check Missed the train? Check Broke my heel? Check Dropped my coffee? Check My first day of my new job can’t possibly go worse, right? Wrong. When I meet Parker Scott...
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The Three Little Pigs
Mark LeskyClassic fairy tales, legends and folk stories in short version without violence retold with lovely illustrations in simple language. Perfect for reading aloud to small chi...
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A Christmas Carol
Charles DickensAn Apple Books Classic edition. It’s Christmas Eve in Victorian England. While some families don’t know where their next meal will come from, Ebenezer Scrooge sits in his large hom...
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Christmas in Sweetbriar Cove
Melody GraceCelebrate the holidays in Sweetbriar Cove with this festive romance collection, containing two sizzling smalltown holiday stories perfect for fans of Tessa Bailey, Sophie Kinsella...
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The Great Gatsby
F. Scott FitzgeraldAn Apple Books Classics edition. The Roaring Twenties are in full effect in F. Scott Fitzgerald’s riveting classic. Manabouttown Jay Gatsby seems to have it all, including loads of...
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Holy Bible
The Church of Jesus Christ of Latter-day SaintsThe 2013 edition of the Holy Bible contains all of the study aids contained in the 1979 edition and includes revisions to the study aids, several new photos, updated maps, and adju...
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The Next Girl
Carla KovachIF YOU ONLY READ ONE BOOK THIS YEAR, MAKE IT THE NEXT GIRL... You thought he’d come to save you. You were wrong. ‘ Absolutely the best thriller I’ve read this year! ’ Goodreads Rev...
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The Count of Monte Cristo
Alexandre DumasAn Apple Books Classic edition. Alexandre Dumas’ classic paints a portrait of Edmond Dantès, a dark and calculating man who is willing to wait years to exact his perfect plan for r...
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Escape, A New Life
David J AntocciTo save herself, she had to lose everything. Trapped in a tropical paradise with no memory of how she got there, Abby is thrust into a fight for her life. Hunted by a madman, and c...
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The Stoic Mind
Addy Osmani & GoLimitlesssDiscover the timeless wisdom of Stoicism in a modern context with "The Stoic Mind," an enlightening visual guide by Addy Osmani and GoLimitlesss. This rich exploration co...
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Meditations
Emperor of Rome Marcus AureliusMeditations is a series of personal writings by Marcus Aurelius, Roman Emperor 161–180 CE, setting forth his ideas on Stoic philosophy.
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Think and Grow Rich
Greg Habstritt & Napoleon HillThink and Grow Rich is one of the most popular success book of alltime, having sold more than 60 million copies since it was first published more than 70...
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Pretty Little Lies
Ivy ThornFour years ago, Nicolo Marchetti took my innocence. But he left me with something else Nicolo almost took everything from me. My virginity, my reputation, and very nearly my future...
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Tempting the King
Jessa YorkAn escaped Mafia Queen, hiding from her past. A Mafia King who wants to claim her… Giselle They think I'm lostbut I know better. I can never be found. The path I've creat...
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Little Women
Louisa May AlcottAn Apple Books Classic edition. Meet the Marches! Louisa May Alcott’s classic introduces us to four unforgettable sisters: beautiful Meg, tomboyish Jo, delicate Beth, and Amy, the ...
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A Green Kind of Witch
Sierra CrossCinderella crossed with Mean Girls.   That's what Hazel's daily existence feels like. Born to a family of elegant yet shallow Beige Witches, seventeen y...
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Silver Santa
Lacey SilksTrapped together on Christmas, their unintended onenight stand becomes a lifechanging encounter amidst the snow. Laura Young's professional role as a security guard at the Sil...
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Rogue Alpha
Kimber WhiteOne touch made her crave him. But the pull of fate could be the path to ruin. College student Laura Prince lands a plum internship deep in the Michigan wilderness. When she discove...
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The Seduction Series Boxset
Roxy Sloane“Sensual, thrilling and wild!”   Discover the bestselling series in one collection: THE SEDUCTION, THE BARGAIN, and THE INVITATION. Perfect for fans of Ana Huang, Sierra S...
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Once Upon A One-Night Stand
Zoey LockeAt first sight, there was electrifying chemistry.  So why not go for it? After all, Lynx Grove, the city's most eligible bachelor, wants to claim her, at least for th...
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Dream Psychology
Sigmund FreudAn Apple Books Classic edition. Written by the founding father of psychoanalysis, Sigmund Freud’s 1899 book is the definitive text on learning to interpret dreams. Freud’s groundbr...
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Good Guy
Kate MeaderHe's a Special Forces veteran making his pro hockey debut. She's a dogged sports reporter determined to get a scoop. She's also his best friend's widow . . . Fa...
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Dracula
Bram StokerAn Apple Books Classic edition. Few characters have seized readers’ imaginations quite like Count Dracula of Transylvania, the hero of Bram Stoker’s classic. The 1897 novel put vam...
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Death at Hazel House
Betty Rowlands‘Riveting, can't put it down! I love this story… a wonderfully twisted tale of a crime that has more twists than I thought possible... fantastic.’ Goodreads Reviewer, 5 stars ...
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Hot Off the Press
Lexy Timms"This is what really happened… reported by a free press, for a free people…" Wes Shaw leads a secret double life. As the secret owner of a billion dollar newspap...
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Eternal
W.J. MayShe will fight for what is hers. When the king is murdered, Katerina, his only daughter, must flee for her life. She finds herself on a strange and dangerous path. Alone for the fi...
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Get Lucky
Lila MonroeFall for the hot and hilarious romcom spin on 'The Hangover', perfect for fans of Tessa Bailey, Ali Hazelwood, and Emily Henry! What happens when you wake up in a hotel s...
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Masters of Restraint
Ines JohnsonMy new boss is good at giving orders. But his latest demand is NSFW. Especially when his two business partners want in on our deal. My new boss My boss’s boss Their investor &#...
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Caught Up with the Captain
Kait NolanCan a retired naval commander and the love he left behind overcome a 34yearold secret to find their way to a second chance? Captain Mitchell Greyson is a man who believes in duty. ...
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Enemies With Benefits
Roxie NoirI don’t love him. I don’t even like him. I just want him. Eli Loveless was my nemesis from the first day of kindergarten until we graduated high school. Everything I did, he had to...
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The Holy Bible - King James Version
King JamesHoly Bible King James Version Few Sample Paragraphs from The Holy Bible eBook, Genesis (OT) 1 Gen. 1 IN the beginning God created the heaven and the earth. 2 And the earth was with...
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Become A Better Version of Yourself
Ben LeightonThis ebook contains golden nuggets on how to motivate, inspire and improve your current situation. It encompasses the holistic view of self improvement from mental& emotion...
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The Four Loves
C. S. LewisThe Four Loves summarizes four kinds of human loveaffection, friendship, erotic love, and the love of God. Masterful without being magisterial, this book's wise, gentle, candi...
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Law of Attraction
Jordan HollisHow to Finally Overcome the Hurdles of Manifesting Proven, effective and enjoyable ways to help you manifest faster… Right now, think of something that makes you successful. If you...
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Man In The Water
Jon HillAn attempted murder. A missing spouse. And an international conspiracy that could change the world. Jack Green has always been skeptical of socalled facts. Though he's forced ...
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Coffee Girl
Sophie SinclairMackenzie "Kiki" Forbes finds herself in a pickle. Either become her snarky sister's nanny, or move halfway across the country to work as assistanttothestylist of a ...
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Alpha
Sybil BartelBillionaire. Mercenary. Navy SEAL. The Teams trained me to be a killer. War taught me to be ruthless. Then an illfated mission proved I was human. Combat wounded, cut loose by the ...
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My Paper Heart
Magan VernonOne piece of paper can change everything After my parents received the letter I failed out of college, they didn't ask questions. They just sent me to work for my great aunt i...
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Dark Psychology and Manipulation
Margaret MorrisonTHE MENTAL MANIPULATOR WILL NO LONGER KEEP SECRETS FROM YOU! Are you fed up with the wool being pulled over your eyes?Are you prepared to stand up to those who believe they can man...
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His Girl Next Door
Khardine GrayFrom USA Today Bestselling author Khardine Gray comes a sizzling hot single dad romance you won't want to miss. No strings attached fun with the ubergorgeous single d...