1. Sotos Syndrome Support Association Online community for education of professionals and families and to exchange ideas, gather research, Category Health Conditions and Diseases Soto s Syndrome...... The sotos syndrome Support Association is very proud to bring you our Website. SotosSyndrome and SSSA FAQ. Your link to the latest information. http://www.well.com/user/sssa/

Last updated: 30 March 2003 These pages are designed for best viewing using screen resolution. We're very glad that you dropped by!!! Our Visit-O-Meter stands now at: (Since: 15 September 1995) Translate this page with InterTran (tm) Deutsch Français Español Portuguese Japanese (Shift JIS) Finnish Italiano Svensk Russian/Ðóññêèé (CP 1251) Nederlands Brasileiro Danske Íslenska Norsk Croatian/hrvatski (CP 1250) Hungarian/Magyar (CP 1250) Polish/polski (CP 1250) Czech/ceski (CP 1250) Bulgarian (CP 1251) Romanian Serbian/srpski (Latin) Slovenian/slovenski (CP 1250) Greek/Åëëçíéêüò Welsh/'n Cymraeg Please MOVE AND HOLD your MOUSE CURSOR over the little DOWN ARROWS in the translated web page in order to see a pop-up window with ALTERNATIVE TRANSLATIONS. The Sotos Syndrome Support Association is very proud to bring you our Website. It has been compiled from the contributions of members of this association. We hope that it adds value to your understanding of this syndrome and the people who are affected by it. Please drop us a note and let us know what you think.

2. What Is Sotos Syndrome? What is sotos syndrome? Typical characteristics of sotos syndrome Growth.Rapid growth is common during the first five years of life. http://www.well.com/user/sssa/whatisit.htm

What is Sotos Syndrome? Translate this page with InterTran (tm) Deutsch Français Español Portuguese Japanese (Shift JIS) Finnish Italiano Svensk Russian/Ðóññêèé (CP 1251) Nederlands Brasileiro Danske Íslenska Norsk Croatian/hrvatski (CP 1250) Hungarian/Magyar (CP 1250) Polish/polski (CP 1250) Czech/ceski (CP 1250) Bulgarian (CP 1251) Romanian Serbian/srpski (Latin) Slovenian/slovenski (CP 1250) Greek/Åëëçíéêüò Welsh/'n Cymraeg Please MOVE AND HOLD your MOUSE CURSOR over the little DOWN ARROWS in the translated web page in order to see a pop-up window with ALTERNATIVE TRANSLATIONS. Excerpts from: "Sotos Syndrome: A Handbook for Families" by Rebecca Rae Anderson, M.S., J.D. Bruce A. Buehler, M.D. (This handbook is an exellent (really excellent!!!) resource for professionals and parents, alike. We encourage you to order copies not only for yourself, but also as an information source for your school, your library, your relatives, and even your doctor Sotos Syndrome, also known as cerebral gigantism because of the distinctive head shape and size, is a genetic condition causing physical overgrowth during the first years of life. Ironically, this rapid physical development is often accompanied by delayed motor, cognitive and social development. Muscle tone is low, and speech is markedly impaired.

3. NINDS Soto's Syndrome Information Page Also known as cerebral gigantism, an information sheet compiled by NINDS.Category Health Conditions and Diseases Soto s Syndrome...... Organizations. sotos syndrome Support Association 3 Danada Square East PMB 235 Wheaton,IL 60187 sssa@well.com http//www.well.com/user/sssa Tel 888246-7772. http://www.ninds.nih.gov/health_and_medical/disorders/sotos.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Soto's Syndrome Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Soto's Syndrome Information Page Synonym(s): Cerebral Gigantism Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Soto's Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Soto's Syndrome? Soto's syndrome is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. The disorder may be accompanied by mild mental retardation, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Soto's syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is normal for their age. Symptoms of the disorder, which vary among individuals, include a disportionately large and long head with a slightly protrusive forehead, large hands and feet, hypertelorism (an abnormally increased distance between the eyes), and downslanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Soto's syndrome occur sporadically, familial cases have also been reported.

4. Tall Persons Club GB & Ireland · Medical Information · Sotos Syndrome sotos syndrome, back to Medical Information. The average child affectedby sotos syndrome will have an IQ at the low end of the normal range. http://www.tallclub.co.uk/medical/sotos.asp

Home Bulletin Board (BBS) Chat Room Events ... Member Login Sotos Syndrome back to Medical Information Sotos is one of the multitude of syndromes, in which height can be one of the symptoms. Its cause is thought to be genetic but, as the chromosome responsible has not been identified, there is no laboratory test to confirm the diagnosis. First described in 1964, the characteristics which lead toward a diagnosis include accelerated growth, facial characteristics, large hands and feet, poor co-ordination, and developmental delay. To date over 100 families are known to the Sotos Group in the UK, but it must be realised that many children are so mildly affected, that they remain undiagnosed, and live perfectly happy and normal lives. Some parents prefer not to inform schools and friends, in order for the child not to be "labelled", others will make the condition known, as it can help toward the provision of the proper support, such as physiotherapy, speech therapy, or attendance allowances. What follows is only the briefest outline of the symptoms which lead to a positive diagnosis. As always, it is important not to view each one in isolation, as they can occur singly, and independently of the syndrome, or as one of a number of symptoms, associated with a totally different condition.

5. Sotos Syndrome sotos syndrome. sotos syndrome Support Association. Three Danda Square East, 235 http://www.kumc.edu/gec/support/sotos.html

Sotos Syndrome Sotos Syndrome Support Association Three Danda Square East, #235 Wheaton, IL 60187 Phone: (888) 246-SSSA or (708) 682-8815 e-mail: sssa@well.com Web site: http://www.well.com/user/sssa/ Support Group for Sotos Syndrome , Australia Child Growth Foundation 2 Mayfield Avenue Chiswick, London, United Kingdom Phone: +44 (0)181 994 7625 / 995 0257 E-mail: CGFLONDON@aol.com Sotos Association - L'Eveil 64 avenue G. Clémenceau 63800 Cournon D'Auvergne France Phone: 04-73-84-50-76 E-mail: sotoseveil@infonie.fr Eltern-Initiative Sotos-Syndrom (EISS), Germany, auf Deutsch Web site: http://www.sotossyndrom.de/ Also See: National organizations information on genetic conditions or birth defects Information for Siblings and Family Members Search AltaVista for "Sotos Syndrome" GeneClinics To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised March 1, 2001 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC

6. Sotos Syndrome Limited directory of who to contact, referrals, and related resources. Includes support group information. sotos syndrome. Who to Contact. Where to Go to Chat with Others http://www.familyvillage.wisc.edu/lib_soto.htm

Sotos Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Sotos Syndrome" Who to Contact Sotos Syndrome Support Association (SSSA) Three Danda Square Wheaton, Illinois, USA 60187 E-mail: sssa@well.com The Sotos Syndrome Support Association provides a social support environment for professionals and families of individuals affected by the syndrome, so they can meet, exchange ideas and help one another cope. They provide an understanding of the condition through education. They publishes a quarterly newsletter, SSSA Newsletter , that offers opportunities for members to network, and share ideas. The newsletter also contains articles, and a current membership roster. The Sotos Syndrome Support Association has a bibliography of articles that are available to members and audio and video tapes of previous conferences that are available for purchase. They have a new 55-page booklet, "Sotos Syndrome," that contains a description of the syndrome from newborn to adulthood; medical and developmental evaluations; and a glossary of terms. The Association hosts annual conference which will be held August 9-11, 1996, in Santa Barbara, California. Call for further information. Further note: 1997 Conference will be held in Ypsilanti, Michigan. Where to Go to Chat with Others We are unaware of any discussion forums specifically for this diagnosis. However, there are several forums that may be of interest to parents of children with disabilities or special health care needs regardless of diagnosis. See

7. Sotos Syndrome Survey Analysis; Walter Gilbert sotos syndrome is a rare genetic condition marked by rapid physical growth which begins before birth and extends thru http://walter.gilbert.name/sotos

Sotos Syndrome Survey Analysis Walter Gilbert Background Sotos Syndrome is a rare genetic condition marked by rapid physical growth which begins before birth and extends thru the first years of life. It is also called cerebral gigantism because of the distinctive shape and size of the head. Unfortunately, this rapid physical development is usually accompanied by delayed motor, cognitive and social development. Muscle tone is low and speech is significantly impaired. See more information at: Sotos syndrome: What is it? Also unfortunately, while Sotos syndrome is classified as a genetic condition, there is no genetic test which can confirm a diagnosis. There is a very active, international community of parents of children who have been diagnosed as having classic Sotos or being Sotos-like . It is centered around an e-mail list; current and archived messages are available at http://groups.yahoo.com/group/Sotosyndrome/ Analyses Having belonged to the Sotos e-mail list for about a year, it became apparent to me that many of the affected children shared traits and symptoms as diverse as eye color, dental problems, and bowel movement abnormalities. Therefore, in November, 2000, I developed a 40-question survey which was e-mailed to the Sotos list. To date [May, 2001], I have received just over 60 responses. I have entered these into a large spreadsheet and have done some analysis which will be presented here. These web pages will likely change often as new responses are received and more analysis is conducted.

8. Sotos' Syndrome (www.whonamedit.com) sotos syndrome A CASE REPORT Mohammed Alhumaidi, MD Address reprint requests and correspondence to Dr. Alhumaidi Assistant Professor, College of Medicine, King Saud University, Abha Branch, P.O. Box 641, Abha, Saudi Arabia. http://www.whonamedit.com/synd.cfm/2464.html

Home List categories Eponyms A-Z Biographies by country ... Contact Sotos' syndrome Also known as: Nevo's syndrome Sotos' sequence Synonyms: Cerebral gigantism, cerebral gigantism in childhood, constitutional gigantism, gigantismus cerebralis, gigantismus constitutionalis, gigantismus idiopathicus, hypothalamic gigantism, macrostomia-mental retardation syndrome, mental retardation-overgrowth sequence, pituitary gigantism, prenatal gigantism with macrocephaly. Associated persons: S. Nevo Juan Fernandez Sotos Description: A syndrome of excessive growth during the first 4 to 5 years of life, with cerebral gigantism and generalised large muscles in childhood, acromegalic features, and a nonprogressive cerebral disorder with nonprogressive mild mental retardation and defective coordination. After early childhood growth seems to approach normal, remaining, however, two standard deviations above means for chronological age. Birth weight and length greater than normal. Other principal features are dolicocephaly, macrocrania, hypertelorism, antimongoloid palpebral slant, high-arched palate, frontal bossing, mandibular prognathism, and precocious dentition. Occasionally, obesity, convulsions, abnormal dermatoglyphic pattern. Both sexes. Most cases are sporadic but some are transmitted as an autosomal dominant trait. Sotos and collaborators in 1964 first defined this syndrome, which was already well known to paediatricians.

9. Pediatric Database Directory of general facts and info on the disease including characteristic features. Offers links. sotos syndrome. DEFINITION An endocrine disorder of unknown etiology characterized by gigantism, peculiar facies, and http://www.icondata.com/health/pedbase/files/SOTOSYND.HTM

Pediatric Database (PEDBASE) Discipline: END Last Updated: 5/19/94 SOTOS SYNDROME DEFINITION: An endocrine disorder of unknown etiology characterized by gigantism, peculiar facies, and mental retardation. EPIDEMIOLOGY: incidence: rare (about 150 cases worldwide) age of onset: large at birth but diagnosis by 2-3 years risk factors: mostly sporadic but some autosomal dominant and autosomal recessive forms M = F PATHOGENESIS: 1. Background unknown but abnormal dermatographics and large size at birth suggest a prenatal abnormality; there may be a role for some as yet unidentified growth-stimulating material also called Cerebral Gigantism Syndrome CLINICAL FEATURES: 1. Infancy/Childhood birth weight and length usually greater than the 90th% mean weight and height are 3.9 kg and 55.2 cm, respectively may be respiratory and feeding problems in the neonatal period during the first 4-5 years, there may be a rapid increase in height but then the height remains parallel to the normal growth curve along or greater than the 95th% 2. Characteristic Features

10. The Contact A Family Directory - SOTOS SYNDROME printer friendly, sotos syndrome, sotos syndrome cerebral gigantism inchildhood. In this rare syndrome babies are generally significantly http://www.cafamily.org.uk/Direct/s36.html

printer friendly SOTOS SYNDROME home more about us in your area conditions information ... how you can help search this site Sotos syndrome: cerebral gigantism in childhood In this rare syndrome babies are generally significantly larger and heavier than average caused by excessive pre-natal and early post-natal growth. Characteristics include macrocephaly (large head) with accelerated bone maturation, delayed development and language problems, widely spaced eyes, prominent jaw, and high arched palate. Intelligence varies from normal to mild learning disability. Children may be clumsy or ataxic (unsteady). Growth rate usually slows at 4-5 years. Early adolescent development usually occurs. Adults are usually within normal height parameters. Weaver syndrome is a condition characterised by: accelerated growth; mild hypotonia ; loose skin; thin hair; and camptodactyly (permanent immobility of a flexed finger joint). Inheritance patterns Most cases are sporadic mutations. Once established inheritance is autosomal dominant. Weaver syndrome inheritance probably has some pattern of inheritance though this has not been fully determined. Pre-natal diagnosis Macrocephaly, large hands, long arms and excessive growth are detectable using ultrasound scanning. Genetic counselling is available for affected families.

11. SOTOS SYNDROME: A CASE REPORT:14(5) November 1994. sotos syndrome A CASE REPORT. Mohammed Alhumaidi, MD. Wedocument the first case report of sotos syndrome from Saudi Arabia. http://www.kfshrc.edu.sa/annals/146/cr9400.html

November 1994 SOTOS SYNDROME: A CASE REPORT Mohammed Alhumaidi, MD Address reprint requests and correspondence to Dr. Alhumaidi: Assistant Professor, College of Medicine, King Saud University, Abha Branch, P.O. Box 641, Abha, Saudi Arabia. Accepted for publication 2 May 1994. A four-year-old Saudi male was seen in the Endocrine Clinic of Asir Central Hospital because of a voracious appetite and excessive gain in weight. On examination, he had the typical phenotypic features of Sotos syndrome which included accelerated growth with height and weight more than three standard deviations (SD) above the mean. He had coarse facial features, prominent forehead, macrocephaly, large ears, hypertelorism and aplethoric face. He was frequently aggressive with advanced bone age of five years and magnetic resonance imaging (MRI) of the brain indicated widening of the lateral ventricles. He had no features to suggest other forms of overgrowth such as Marfan syndrome, McCune-Albright syndrome or homocystinuria. Endocrine causes of excessive weight gain due to pituitary or adrenal hyperfunction have been ruled out by biochemical tests, computed tomography (CT), and MRI. We document the first case report of Sotos syndrome from Saudi Arabia.

12. Specific Diagnoses (S - T) LemliOpitz Syndrome; Smith-Magenis Syndrome; sotos syndrome; SpasmodicTorticollis; Spina Bifida; Spinal Cord Injuries; Spinal Muscular http://www.familyvillage.wisc.edu/card_st.htm

Specific Diagnoses (S - T) S Sanfillippo Syndrome See Mucopolysaccharidosis Schizophrenia Scleroderma Scoliosis ... Shaken Baby Syndrome Short-Chain Acyl-CoA Dehydrogenase Deficiency See Fatty Oxidation Disorders Short Stature See Growth Disorders Shprintzen Syndrome See Velo-Cardio-Facial Syndrome (VCFS) Shwachman Syndrome Shy Drager Syndrome Sickle Cell Disease ... Spinal Muscular Atrophy Steinert's Disease See Myotonic Muscular Dystrophy Stevens Johnson Syndrome Stickler Syndrome Sturge-Weber Syndrome ... Syringomyelia T Tay-Sachs Disease TEF-VATER See VATER Association Thalassemia Thrombocytopenia Absent Radius Syndrome (TAR) Thyroid Disorders ... Tracheostomy Traumatic Brain Injury See Brain Injury Treacher Collins Syndrome Tremor Trichotillomania ... Trisomy 13/18 Trisomy 21 See Down Syndrome Tuberous Sclerosis Turner Syndrome Twin-to-Twin Transfusion Syndrome Back to [ Specific Diagnoses Card Catalog A - B C - D E - F ... Information Last updated Monday, July 01, 2002 by rowley@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/card_st.htm

13. The DRM WebWatcher: Sotos Syndrome A Disability Resources Monthly guide to the best online resources about Sotossyndrome. For information about sotos syndrome, check these sites. http://www.disabilityresources.org/SOTOS.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Sotos Syndrome Updated 3/19/2000 A B C D ... About/Hint/Link Sotos syndrome is a rare genetic disorder characterized by excessive growth prior to and after birth. Children affected by Sotos syndrome may exhibit characteristic facial differences and developmental delays. For information about Sotos syndrome, check these sites. Cerebral Gigantism Technical information from Online Mendelian Inheritance in Man (OMIM). Soto Syndrome Brief clinical information from Pediatric Database. Sotos Syndrome An overview and additional sources of information from the National Organization for Rare Disorders. Sotos Syndrome Support Association The web site of this nonprofit organization includes FAQs, support, and links. Related subjects: Developmental Disabilities Facial Differences Growth Disorders Rare Disorders ... Resources in your state (c) 1997-2000 Disability Resources, inc.

14. The DRM WebWatcher: Sotos Syndrome The Nail Patella Syndrome (also known as hereditary onychoosteodysplasia, orHOOD) is a rare, inherited disorder that can cause nail and skeletal defects http://www.disabilityresources.org/NAIL.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Nail Patella Syndrome (NPS) Updated 8/13/2001 A B C D ... About/Hint/Link The Nail Patella Syndrome (also known as hereditary onycho-osteodysplasia, or HOOD) is a rare, inherited disorder that can cause nail and skeletal defects, small or absent kneecaps, "iliac horns" at the rear of the pelvis, renal disease, and other conditions. BatesWorld - Nail Patella Syndrome While we tend to eschew personal homepages with medical information (see Evaluating Disability Information on the Internet ), this nicely designed and well-written site is worth visiting just for its "Contacts, Research and Links." The author pulls together a wide range of resources relating to this little-known disorder, including several other good homepages. Nail Patella Syndrome This excellent page from John Hopkins University includes links to other online resources, illustrations, a genetic overview, and a lengthy bibliography. Nail Patella Syndrome This entry from the NORD database provides a basic medical overview and links to related sites.

15. Health Information Resource Database: Sotos Syndrome Support Association sotos syndrome Support Association. Contact Information. Information ThreeDanada Square East 235 Wheaton, IL 60187. 888246-7772 (Voice - Toll-free). http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2419

16. Sotos Syndrome Support Group Of Canada The sotos syndrome Support Association of Canada / Association Canadienne d'entraidedu Syndrôme de Sotos was formed to provide educational and emotional http://www.sssac.com/

SSSAC/ACESS was incorporated January 2002 to provide educational and emotional support to Canadian families of persons with Sotos syndrome and to provide a better understanding to parents, government and the public at large of Sotos syndrome (Cerebral Gigantism) through education Sotos Syndrome Support Association of Canada 1944 Dumfries Montreal , Quebec, H3P 2R9 Charity/business tax number : #898824917RR001 info@sssac.com No Content From This Site May Be Reproduced or Publicly Reposted Without Express Written Permission From Sotos Syndrome Support Association of Canada Site Design Arriba Caribe Group

17. Index Page Of Walter Gilbert, Walter J. Gilbert, Walter John Gilbert http//walter.gilbert.name/squirrel/squirrel.htm; sotos syndrome Here's a smallweb site I am developing on sotos syndrome, including an analysis of a survey http://walter.gilbert.name/

W A L T E R G I L B E R T WALTERGILBERT.WEB.COM You have reached the index page for the several web sites of Walter Gilbert. You may want to bookmark this page since I do not have many places that point back to here (I'm working on that). All of the links, below, to other web pages will open up a new page on top of this one. Therefore, this one will alway be available; you won't have to (in fact, you can't ) go Back to it. Just move the top page out of the way. Please feel free to visit: My genealogy. It features a searchable index of about 7000 names and about 1100 pages of families I either descended from or closely related to. http://walter.gilbert.name/gen/htmfile/frames.htm I also have a page of distant cousins . Here's a fun read about early Albany, N.Y.: Mynheer Van Schlichtenhorth Mary Genevieve Gilbert is our latest grandchild. Visit her web page. The genealogy of the Linz and Telljohann families of Baltimore and Germany ; my wife's family. This is a new site and currently doesn't have the index. http://users.erols.com/bettygilbert/betty/htmfile/2.htm

18. Nature Publishing Group 4 pp 365 366 Haploinsufficiency of NSD1 causes sotos syndrome Naohiro Kurotaki1, 2 , Kiyoshi Imaizumi 3 , Naoki Harada 1, 2, 4 , Mitsuo Masuno 3 , Tatsuro http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v30/n4/full/ng863.ht

19. Figure 1 Haploinsufficiency of NSD1 causes sotos syndrome Naohiro Kurotaki etal. Figure 1 NSD1 mutations in individuals with sotos syndrome. http://www.nature.com/ng/journal/v30/n4/fig_tab/ng863_F1.html

To return to the article, close this browser window. To toggle between the article and the figure, click on the browser window containing the article. Haploinsufficiency of causes Sotos syndrome Naohiro Kurotaki et al. Nature Genetics Figure 1: NSD1 mutations in individuals with Sotos syndrome. a , BAC/PAC/cosmid map spanning the 5q35 breakpoint. Red and blue horizontal lines indicate clones spanning the breakpoint (detected by FISH analysis) and complete genomic sequences, respectively. Arrows indicate genes, and green boxes below represent exons 1, 2 and 3. b , Genomic structure of and four point mutations found in individuals with Sotos syndrome. Open and gray boxes and arrowheads indicate exons, the 5' and 3' untranslated regions, and start and stop codons, respectively. Specific domains are indicated by colored boxes, and sequence traces disclose mutations in lower row. c , FISH analysis of the affected individual harboring the deletion. Absence of a FISH signal for RP1-118m12 containing (green) along with the presence of 5pter signals (red) on the individual's chromosome 5 is apparent. d To return to the article, close this browser window. To toggle between the article and the figure, click on the browser window containing the article.

20. Ruvalcaba-Myhre-Smith Syndrome (www.whonamedit.com) RuvalcabaMyhre-Smith syndrome A syndrome combining the principal elements of thesotos syndrome (cerebral gigantism) with intestinal polyposis and pigmented http://www.whonamedit.com/synd.cfm/1275.html

Home List categories Eponyms A-Z Biographies by country ... Contact Ruvalcaba-Myhre-Smith syndrome Also known as: Ruvalcaba’s syndrome II Associated persons: S. Myhre Rogelio H. A. Ruvalcaba David Weyhe Smith Description: A syndrome combining the principal elements of the Sotos syndrome (cerebral gigantism) with intestinal polyposis and pigmented lesions (café-au-lait spots) on the penis. There is severe mental deficiency, macrosomy, and macroencephaly. Reported also myopathy. Etiology unknown. Both sexes. From Birth. Autosomal dominant inheritance. D. Harris and William R. Smith, Oklahoma, in 1960 described a mother and four of her seven children with the triad of macrocephaly, pseudopapilledema, and multiple haemangiomas. G. A. Bannayan in 1971 described a single case with macrocephaly and multiple lipomas and haemangiomas. R. Ruvalcaba, S. Myhre, and David W. Smith, paediatricians, Seattle, in 1980 described two patients with macrocephaly, intestinal polyposis and spotted pigmentation of the shaft of penis. Bibliography: R. H. A. Ruvalcaba, S. Myhre, D. W. Smith:

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