https://www.merckmanuals.com/professional/pediatrics/connective-tissue-disorders-in-children/osteochondrodysplasias-osteochondrodysplastic-dwarfism. else
Learn more here. However, with management of symptoms, it is possible for a person with dwarfism to live a long and healthy life. Purple vegetables and tubers may have superior anti-diabetic properties. Pertinent for two people, each having a dominant skeletal dysplasia, as their children will have the possibility of inheriting two genes for skeletal dysplasias usually resulting in a severe or lethal skeletal dysplasia. Short stature disorders do not include familial short stature short height that's considered a normal variation with normal bone development. This is because the small size and low body weight could be a sign of other things, such as poor nutrition or a metabolic disorder. Mayo Clinic on Incontinence - Mayo Clinic Press, NEW The Essential Diabetes Book - Mayo Clinic Press, NEW Ending the Opioid Crisis - Mayo Clinic Press, FREE Mayo Clinic Diet Assessment - Mayo Clinic Press, Mayo Clinic Health Letter - FREE book - Mayo Clinic Press, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic School of Continuous Professional Development, Mayo Clinic School of Graduate Medical Education, Book: Mayo Clinic Family Health Book, 5th Edition, Newsletter: Mayo Clinic Health Letter Digital Edition. Achondroplasia is responsible for most of the dwarfism cases. Spondyloepiphyseal dysplasia congenita. Down Syndrome) are not confused with a baby that is simply short stature. So the fact that we got to celebrate her first birthday at home was a huge deal," Brittany says. The major cause of short stature or dwarfism in the world is the autosomal disorder. Other groups extend the criteria for certain forms of dwarfism to 5 feet, but the average height of an adult with dwarfism is 4 feet. Seattle, Wash.: University of Washington, Seattle; 1993-2018. https://www.ncbi.nlm.nih.gov/books/NBK1116/. Dwarfism has many different forms. Kids with dwarfism who have lower self-esteem may need emotional support from their parents to deal with their feelings. Individuals with MOPD 1 often have an underdeveloped brain, which leads to seizures, apnea, and intellectual developmental disorder. But there is also a 25% chance the child will inherit both dwarfism genes, a condition known as double-dominant syndrome. Girls with Turner syndrome may have heart problems. Some people with these conditions prefer identifying themselves as "little . Imaging.Doctors may spot signs of achondroplasia, such as shorter limbs, or other causes of dwarfism on ultrasounds of a fetus during pregnancy. http://www.genome.gov/19519119. Symptoms are generally so severe that a baby with Patau syndrome rarely lives past the first month. "It was really hard," Brittany Kuper, 32, tells PEOPLE. The most common symptom of dwarfism (a form of skeletal dysplasia) is short stature. Brittany got a quick glimpse of her daughter before Grant accompanied the newborn to the NICU, where Esther was placed on a ventilator. Can diet help improve depression symptoms? Most people with dwarfism prefer not to be labeled by a condition. Mutations in the FGFR3 gene on chromosome 4p16.3 have been described. Placement of drainage tubes in the middle ear to help prevent, Orthodontic treatment to relieve crowding of, Back pain or breathing difficulties due to hunched or swayed back, Frequent ear infections and possibly hearing loss, Pressure on the spine at the base of the skull, Spinal stenosis, a narrowing of the spine that may cause leg pain or numbness. Kids with lower growth hormone levels or Turner syndrome may have emotional or social problems due to delays in sexual development. Mum-of-two Laura Phillips, 31, was born with achondroplasia - a type of dwarfism that prevents the changing of cartilage to bone - leaving her standing at just 4ft 1inch tall. The one exception is Russell-Silver syndrome. At regular check-ups, your childs height, weight, and head circumference will be measured and compared to percentiles for standard development for their age. Rare exceptions are usually the result of a secondary factor, such as excess fluid around the brain (hydrocephalus). It is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. (2008). Many genetic conditions can cause people to have short stature. Advertising revenue supports our not-for-profit mission. 1998-2023 Mayo Foundation for Medical Education and Research (MFMER). window.open(colorcodeurl,"","width=450,height=175,screenX="+xOffset+",screenY="+yOffset+",top="+yOffset+",left="+xOffset);
Reduce brain stem compression, which is pressure on the part of the brain that connects to the spinal cord. The greatest risk for recurrence quoted in the literature is approximately 2% which is at the low end for the birth of a child with a birth defect (general population risk 3% to 5% for a birth defect). Most people with this disorder are stillborn or die in infancy because they cannot breathe. Growth hormone deficiency is a relatively common cause of proportionate dwarfism. Support services for couples having a baby affected with double dominant or double heterozygote dwarfism (2 genetic doses of dwarfism) causing a lethal condition. Many types of non-fatal dysplasia have been attributed to mutations in the COL2A1 gene on chromosome 12q11. Flat nasal bridge (bony area at the top of the nose). "At six months old, we were told she probably wouldn't be home for her first birthday. Our website services, content, and products are for informational purposes only. The rate that a child will inherit the condition increases if one or both parents have a dwarfism diagnosis and can be different depending on which form of dwarfism a person has. National Human Genome Research Institute. Double DominanceSource/Author: Mary Ellen Little, ADN RNCSupport groupWeb site designed by the LPA bereavement coordinator for LPA. It affects cartilage and bone development, causing very short arms and legs and a short stature. There are potential symptoms of the condition that could take a toll on your child and your family, especially if their abnormal bone growth requires multiple surgeries. Women with disproportionate dwarfism may have pregnancy complications, such as respiratory problems. A rare form of achondroplasia occurs when people inherit two copies of a mutated gene that causes achondroplasia. Primordial dwarfism can be serious, but it is very rare. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Merck Manual Professional Version. Providing educational and/or emotional support to prevent bullying in school. Read more. What causes dwarfism? Osteochondrodysplasias (osteochondrodysplastic dwarfism). At home with her family, Esther loves staring at Christmas lights, her two labradoodles Dexter and Winnie and watching American Idol with her mom. This abnormal growth can also result in uneven growth that produces a body of unusual proportions. They are totally proportionate, which means that their legs and head are in proportion to their bodies. You'll soon start receiving the latest Mayo Clinic health information you requested in your inbox. Journal of American Association for Pediatric Ophthalmology and Strabismus. The disorder typically has a grim prognosis the name literally translates from Greek as "death bearing" and many babies are stillborn, or die shortly after birth, Zamora says. "It's not easy, and it doesn't mean every kid will survive if you pursue intervention, but it's not as grim as a lot of the outdated research makes it look.". "It's super rare.". Achondroplasia primarily affects the bones of the arms and legs. 2004-2023 Healthline Media UK Ltd, Brighton, UK, a Red Ventures Company. Because dwarfism is relatively uncommon, children may feel isolated from their peers. (2004). We link primary sources including studies, scientific references, and statistics within each article and also list them in the resources section at the bottom of our articles. Early diagnosis and treatment can help prevent or lessen some of the problems associated with dwarfism. French researchers fool a dysfunctional gene to stimulate regular bone growth in young mice with dwarfism. Double heterozygosity in bone growth disorders: four new observations and review.Source/Author: Flynn MA, Pauli RM.AbstractReviews the following cases of double heterozygosity: achondroplasia & spondyloepiphyseal dysplasia congenita, achondroplasia & pseudoachondroplasia, achondroplasia & osteogenesis imperfecta type I, achondroplasia & hypochondroplasia, pseudoachondroplasia & spondyloepiphyseal dysplasia congenita, Leri-Weill Dyschondrosteosis & hypochondroplasia/achondroplasia, osteogenesis imperfecta & pseudoachondroplasia. Mayo Clinic is a not-for-profit organization. But when Whitfield woke up after her operation, she saw her husband-to-be with their newborn baby boy by his side. Brittany reached out to the family on social media, and they connected her with other families of babies with the disorder. Not all children with this condition live on to adulthood. Merck Manual Professional Version. function colorcode() {
Most people with dwarfism have disorders that cause disproportionately short stature. Last medically reviewed on December 9, 2017, Marfan syndrome is a genetic condition that affects connective tissues. GENASSIST, Incorporated, a woman owned and operated genetics company, established in 1983, was created like so many companiesout of necessity. It is only done on adults. if (document.layers)
Meier-Gorlin syndrome 1; MGORS1. During her nearly 11 months in the hospital, Esther went to the operating room 10 different times for 34 different procedures, five of which were surgeries. Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. Some children with this condition die of respiratory problems. Dwarfism (skeletal dysplasia) is a rare condition. Advertising on our site helps support our mission. Cleveland Clinic is a non-profit academic medical center. Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenitaSource/Author: Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH. Signs of the condition first appear in the fetal stage and continue through childhood, adolescence, and adulthood. AbstractCase report of newborn with achondroplasia and SEDc. Noonan Syndrome is a genetic condition that is associated with congenital heart disease, bleeding problems, short stature, and unusual facial features. 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Some of these dwarfism types can be treated with growth hormones. AbstractCase report of a child with both pseudoachondroplasia and spondyloepiphyseal dysplasia. The gene mutation can occur spontaneously or can be inherited. The cause of growth hormone deficiency can sometimes be traced to a genetic mutation or injury, but for most people with the disorder, no cause can be identified. Achondroplasia is a rare genetic disorder that causes short stature and bowed legs as a result of a genetic mutation. National Library of Medicine. Although there is no cure for dwarfism (skeletal dysplasia), many people of short stature have a normal life span and good health with treatment to address their symptoms. Mayo Clinic, Rochester, Minn. July 20, 2018. People also asked. Accessed Aug. 5, 2014. Typically, skeletal dysplasias are genetic conditions. Dwarfism occurs when a person is unusually short. Genetic testing is also now available to help confirm the specific type of primordial dwarfism. The mutation in the child occurs spontaneously at the time of conception. Symptoms of Chondrodysplasia in Dogs The most common causes include: Achondroplasia Though achondroplasia. Genetic testing.DNA tests may be done before or after birth to look for genetic mutations linked to dwarfism. Most doctors only perform these tests when there is a reason to believe a fetus is at risk when dwarfism runs in a family. A diagnosis of achondroplasia, diastrophic dysplasia, or spondyloepiphyseal dysplasia can be confirmed through genetic testing. Little People of America: "Frequently Asked Questions. Pagon RA, et al., eds. The most common bones that dwarfism affects are the long bones in the arms and legs, but it can affect other bones including the bones in your arms and legs as well as your abdomen and head. It makes arms and legs short in comparison to your head and trunk. Causes of dwarfism can be genetic, familial, environmental, dietary or metabolic. It occurs when the pituitary gland fails to produce an adequate supply of growth hormone, which is essential for normal childhood growth. This makes them very short, but produces hands, feet, and a head of typical size. Now 18 months old, Esther weighs a little over 13 lbs., and she's doing well, says Zamora. Learning about Turner syndrome. The mother was reportedly told to consider having an abortion because doctors worried the combination of genes would prove deadly. Primordial dwarfism can be difficult to diagnose. Skeletal dysplasia is caused by a genetic mutation. Other signs of proportionate dwarfism in children are: There are approximately 400 types of dwarfism. Wondering about the best CBD oil for back pain? Theoretically, the risk of recurrence is approximately the same as the mutation happening the first time. Hundreds of types of dwarfism (skeletal dysplasia) affect bone growth. Physically, canines have fox-like facial features, but GSDs with dwarfism . Silver-Russell Syndrome; SRS. "I didn't know if the next time I saw her she'd be alive, and Grant had to leave me and go be with her.". A female inherits an X chromosome from each parent. In many cases, people with dwarfism have orthopaedic or medical complications. Accessed May 14, 2018. Good point. Make a donation. Learn more. Great care needs to be taken during pregnancy especially when ultrasound is performed to make sure that ultrasound markers that might be an indication for a chromosomal abnormality (ie. Nathan Phillips, 34, and Laura Whitfield, 24, met during filming of the Channel 4 documentary Seven Dwarves., Do Not Sell/Share My Personal Information. Since some types of dwarfism (skeletal dysplasia) are genetic, there is no way to prevent the condition unless a technology like pre-implantation genetic testing were to be used. However, this results in a higher strain on their joints and limbs. 9500 Euclid Avenue, Cleveland, Ohio 44195 |, Important Updates + Notice of Vendor Data Event, Dwarfism (Skeletal Dysplasia) and Other Causes of Short Stature, (http://www.lpaonline.org/faq-#Disability), (https://www.marchofdimes.org/baby/achondroplasia.aspx), (https://www.nhs.uk/conditions/restricted-growth/), (https://www.genome.gov/19517823/learning-about-achondroplasia/), (https://medlineplus.gov/dwarfism.html#summary), (https://rarediseases.org/rare-diseases/growth-hormone-deficiency), (https://rarediseases.info.nih.gov/diseases/8173/achondroplasia), Visitation, mask requirements and COVID-19 information. Achondroplasia. This makes infant Nathan Phillips the UK's first "double dwarf," according to The Mirror. Some forms of dwarfism are evident in utero, at birth, or during infancy and can be diagnosed through X-rays and a physical exam. In addition, test results took weeks to return so that the information that the patient received was not timely. DNA testing may help parents with family planning if they wish to have more children. This disorder usually results in the following: Another cause of disproportionate dwarfism is a rare disorder called spondyloepiphyseal dysplasia congenita (SEDC). The symptoms of this form of primordial dwarfism include: Almost all cases of Meier-Gorlin syndrome show dwarfism, but not all show a small head, underdeveloped jaw, or absent kneecap. This gives them the appearance of being a puppy, even when they are fully grown. Skeletal dysplasias cause the bones to grow abnormally, resulting in a small stature. "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. Doctors don't know what kind of impact little Nathan's double dwarfism will have, but they said he could lead a relatively normal life. http://ghr.nlm.nih.gov/condition/isolated-growth-hormone-deficiency. Except for hormone therapy in cases of Russell-Silver syndrome, most treatments wont treat shortness or low body weight in primordial dwarfism. Test your Knowledge on Dwarfism Accessed May 14, 2018. This is because the small size and low body weight could be a sign of other things, such as poor nutrition or a metabolic disorder. Pertinent for two people, each having a dominant skeletal dysplasia, as their children will have the possibility of inheriting two genes for skeletal dysplasias usually resulting in a severe or lethal skeletal dysplasia. McKusick VA, et al. Intellectual developmental disorder can occur, but isnt as common as might be assumed given the small brain. https://www.uptodate.com/contents/search. Achondroplasia. Any use of this site constitutes your agreement to the Terms and Conditions and Privacy Policy linked below. The condition is very rare. Mutations in this same gene are believed to be responsible for Achondroplasia. Dwarfism could be induced because of infections, tumours or infacrtion of the pituitary, it could also be hereditary. This means that most parents who have children diagnosed with dwarfism are of average height. privacy practices. information submitted for this request. Girls with suspected Turner syndrome may need DNA tests to check their X chromosomes. After your child is born, your provider will keep track of your childs growth during annual wellness visits. Healthline Media does not provide medical advice, diagnosis, or treatment. A person diagnosed with any type of dwarfism will almost always have a height below 4 feet 10 inches as an adult. Most causes are genetic. Required fields are marked *, You may use these HTML tags and attributes:
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The couple invited friends and family to a costumed first birthday party at their home in Moorhead, Minneapolis. Improve breathing by removing tonsils and/or adenoids. Theyll also keep a record of the height, weight, and head circumference of your child to compare these to normal growth patterns. The most common forms of dwarfism, which are caused by genetic abnormalities of the skeleton and cartilage, may be detected through genetic testing when a fetus is still developing. the unsubscribe link in the e-mail. It completely changed that day.". (SWNS.com). But primordial dwarfism generally doesnt respond to hormone treatment, because its genetic. People with dwarfism may need help with related medical conditions, such as osteoarthritis. Seckel syndrome 1; SCKL1. MNT is the registered trade mark of Healthline Media. When average-size parents have a child with dwarfism due to a spontaneous mutation, it is not likely that other children will also have the mutation. Dwarfism (a form of skeletal dysplasia) is an umbrella medical term that includes hundreds of conditions that affect the growth of bone and/or cartilage, resulting in short stature. Yes, some types of dwarfism (caused by a skeletal dysplasia) are genetic and are the result of a change in a persons DNA. }
But at the 20-week anatomy scan, the doctor had different news: the baby had dwarfism. Brittany, Grant and Esther Kuper at home. A C-section (cesarean delivery) is almost always necessary because the size and shape of the pelvis doesn't allow for successful vaginal delivery. #8. lawtonfogle said: Yes, many would, but this is not a question of person morals, but is 'it will cause genetic problems (including death)' a reliable reason to ban reproduction, or even the act of sex (since so many people want to equate the two). Only a few are caused by translocation or mosaicism. Because these disorders affect overall growth, many of them result in poor development of one or more body systems. In most cases, the genetic mutation happens randomly and is not passed from a short-statured parent to a child. Early Fatal types of dwarfism are uncommon with most being due to spontaneous or new (denovo) mutations in genes which control growth and other vital organ functions. "Typically, these children are born with very shortened bones, [and a] small chest. There are also other types of dwarfism that arent primordial. Coming to a Cleveland Clinic location?Hillcrest Cancer Center check-in changesCole Eye entrance closingVisitation, mask requirements and COVID-19 information, Notice of Intelligent Business Solutions data eventLearn more. MOPD 1 is also called Taybi-Linder syndrome. // ]]>. 2005-2023 Healthline Media a Red Ventures Company. Thanatophoric Dysplasia is one of the rare dysplasias (the incidence of occurrence is approximately 1 in 20,000 to 1 in 50,000 births). She communicates via switches. If you plan on becoming pregnant and want to understand your risk of having a child with an inherited condition like achondroplasia or dwarfism, contact your healthcare provider about genetic testing. Most occurrences of dwarfism result from a random genetic mutation in either the father's sperm or the mother's egg rather than from either parent's complete genetic makeup. To provide you with the most relevant and helpful information, and understand which
AbstractCase report of a teenager with both achondroplasia and hypochondroplasia. Because people with dwarfism have special medical needs, most need regular consultations with a team of doctors, including bone and cartilage specialists. Causes of short stature. By submitting your email to receive this newsletter, you agree to our. var xMax = 800, yMax=600;
The spine, arms, and legs of people with this condition do not grow as expected. 2013;17:100. Dwarfism has many different causes. 1999 Jun 11;84(5):401-5. Most causes of dwarfism are not from a chromosomal abnormality. Spondyloepiphyseal dysplasia congenita. Surgical treatment to address symptoms could include surgery to: Other types of treatment to address symptoms of dwarfism (skeletal dysplasia) that dont involve surgery include: Treatment for dwarfism is lifelong and helps improve a persons quality of life. (20th Anniversary Edition - Completely Revised, Updated and Expanded). Topics: Genetics Home Reference. There are five basic types of primordial dwarfism. Also discussed the relationship between pseudoachondroplasia and MED, Fairbank type. By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc. Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc. Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center, Clinical Professor, Division of Genetics/Dept.
In addition to small body size, individuals with MOPD 2 may have other abnormalities, including: Other features that can develop over time include: Some people with MOPD 2 develop dilation of the arteries leading to the brain. Rogol AD. The three most common types of skeletal dysplasias are achondroplasia, spondyloepiphyseal dysplasia congenita, and diastrophic dysplasia. Genetics Home Reference. "Mayo," "Mayo Clinic," "MayoClinic.org," "Mayo Clinic Healthy Living," and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia. ", "It used to be something that it was fatal and that was it," Zamora adds. National Library of Medicine. Your healthcare provider will work closely with you and your child to make sure they receive the treatment they need to live a full and healthy life. Hormone tests.Tests of growth hormone levels can confirm if theyre low. 1999 Jun 11;84(5):396-400. Short stature or dwarfism has been discovered to be a medical condition that can be caused by not less than two hundred causes. Because its a problem in the genes that control cell growth, and not a shortage of growth hormone, treatment with growth hormone doesnt affect most types of primordial dwarfism. Your healthcare provider can diagnose dwarfism (skeletal dysplasia) before birth, in some cases. Almost all people with disproportionate dwarfism have normal intellectual capacities. The word "midget" is generally considered an offensive term. Is the ketogenic diet right for autoimmune conditions? Achondroplasia is the most common form of dwarfism. "There was hope that Esther could survive," Brittany says. Autosomal dominant types include: Autosomal Dominant Pseudoachondroplasia is believed to be due to a mutation in the cartilage oligomeric matrx protein (COMP) gene. "With the recent additions of Non Invasive Prenatal Testing [NIPT]: 1st and 2nd Trimester Aneuploidy Screening, Maternal/ Fetal DNA and Microarray Testing, Keith and Laurie felt that these advancements demanded a completely revised, updated, and expanded 20th Anniversary Edition", 8200 E Belleview Ave, Suite 410C- Central Tower, Nuchal fold equal or greater than 5 mm up to 18 weeks gestation , equal to or greater than 6 mm at 18 to 22 weeks gestation, Frontal lobe greater than or equal to 2 weeks smaller than dates, Tricerebellar diameter greater than or equal to 2 weeks smaller than dates, Bilateral hydronephrosis/pyelectasis greater than or equal to 4 mm, Missing, small bone or triangular middle phalanx in the fifth digit (pinky), Splaying of hips greater than or equal to 90 degrees, Humerus greater than or equal to 2 weeks smaller than dates, Femur greater than or equal to 2 weeks smaller than dates. Medically, a person is considered to have dwarfism when they have a condition that causes them to be very short. 1999 Jun 11;84(5):401-5. A month later, the Kupers learned that their baby, a girl, had a genetic disorder called thanatophoric dysplasia, a very rare form of dwarfism, diagnosed in one in 50,000 births. As their caregiver, remember to treat your child according to their age, not their height. Symptoms of dwarfism can sometimes lead to additional health concerns for people diagnosed with the condition due to their abnormal bone growth including: Several potential causes lead to a dwarfism (skeletal dysplasia) diagnosis. Accessed Aug. 5, 2014. But all are in proportion with each other. "She's filled with joy, and she just brings joy to anyone around her. We avoid using tertiary references. It is a seemingly random occurrence that can happen in any pregnancy. Most cases of dwarfism are not fatal. McKusick VA, et al. Clinical management of achondroplasia. Some of these types can lead to fatal diseases. Many types of dwarfism are genetic, which means you can inherit the condition from your parents and other forms occur randomly through DNA changes. of Pediatrics, Univ. They also didn't have a baby shower, because they didn't want to come home from the hospital without a baby to a room full of gifts. "One of the most inspiring parts of caring for Esther has been the fact that this family really celebrates and just enjoys every moment with this child," she says. This stigma may include bullying and employment discrimination, as well as the use of negative terms like midget.. Achondroplasia, on the other hand, is inherited in a dominant manner. Symptoms of proportionate dwarfism include a smaller head, arms, and legs.
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