Sotos' Syndrome (www.whonamedit.com) Other principal features are dolicocephaly, macrocrania, hypertelorism, antimongoloid palpebral slant, higharched palate, frontal bossing, mandibular http://www.whonamedit.com/synd.cfm/2464.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. 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. 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.
Albright-Butler-Bloomberg Disease (www.whonamedit.com) dentition. Associated disorders include waddling gait, protuberant abdomen and, less commonly, dolicocephaly and craniosynostosis. http://www.whonamedit.com/synd.cfm/992.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A syndrome of severe developmental anomalies, marked by short-limbed dwarfism affecting the lower extremities, bowing of the lower limbs, genua vara, occasional genua valga, costochondral beading, enlarged wrists and ankles, enamel hypoplasia, delayed dentition, and premature loss of permanent dentition. Associated disorders include waddling gait, protuberant abdomen and, less commonly, dolicocephaly and craniosynostosis. It is a metabolic disturbance of hypophosphatemia, elevated serum alkaline phosphatase, diminished tubular reabsorption of phosphate with resulting hyperphosphaturia, and faulty intestinal absorption of calcium. It is resistant to Vitamin-D therapy. Onset usually takes place after 6 months of age. Inheritance is X-linked.
ORPHANET - Rare Diseases - Orphan Drugs Facial features include dolicocephaly, full brow, ptosis, long eye lashes, wide nasal bridge, flat midface, puffy eyelids, full cheeks, bulbous nose, large or http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=48652
ORPHANET - Rare Diseases - Orphan Drugs The child had several other anomalies musche hypoplasia, growth retardation, dolicocephaly, skull asymmetry with right occipital and left supraorbital http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1101
Abstract of having Sotos syndrome due to polyhydramnios in her mothers pregnancy, large birth weight and length, macrocephaly, dolicocephaly, frontal bossing http://web.feccbologna.it/7_39.htm
Extractions: ABSTRACT Clinical Sotos syndrome with del(5)(qter) detected by subtelomeric FISH analysis. J. M. D. Hahnemann , B. Kassow , K. Nielsen , L. Buchardt , P. Baekgaard and M. Dunoe Medical Genetics Laboratory Center, The John F. Kennedy Institute, Glostrup, Denmark Center of Childrens Neurology, Dept. Paediatrics, Glostrup University Hospital, Glostrup, Denmark Molecular Genetics Laboratory, Dept. Clinical Genetics, Rigshospitalet, Copenhagen, Denmark ponsible for this syndrome, NSD1, is located in 5q35. A real-time quantitative PCR approach subsequently confirmed that the deletion included exon 5 of the NSD1 gene. This is to our knowledge the first diagnosis of Sotos syndrome through subtelomeric FISH. Deletions of the whole NSD1 gene were originally reported by a Japanese group to be the most frequent type of mutation among persons with Sotos syndrome. Mapping of the size of the deletion by FISH is in progress. Authors Home Page Keywords Abstracts will be published by Elsevier (Annales de Génétique)
Neurological Examination Of Newborns And Infants Much attention should be paid to the head shape dolicocephaly, brachiocephaly, towerlike skull, left or right inclination are all variants of normal skull. http://www.russianadoption.org/Neurologicalexaminationnewbornsandinfants.htm
Extractions: Meningeal signs It should be noted that neurological status of the newborns has some special features. The mainstay of investigation is the analysis of congenital reflexes which reflect the maturity if CNS, viability of the newborn and adaptation potential. The following conditions should be fulfilled during examination: comfortable room T (25-26), and it is not recommended to examine the child immediately postprandial or before feeding because feeding determinant can change the level of his congenital reflexes. It should be noted that congenital reflexes of newborns are very labile and are easily fatigued. One should elicit reflexes quickly and turn the child only after cranial and facial skeleton and cranial nerves have been already tested. It is important to look for dysembryological stigmata, which can be frequently encountered: abnormal earlobes (low amount of helixes, absence of earlobes, elongated upper part rabbit's ear, low set ears), wide nose bridge (hypertelorism), prognatism, low hair border.
Skadi Forum - Medicism/Columbus However, Mediterranean is not one of them. Dark eyes, dark hair, and dolicocephaly do not make a Mediterranean. Several races share those characteristics. http://www.skadi.net/forum/showthread.php?goto=lastpost&t=10630
Stormfront White Nationalist Community However dolicocephaly (long headedness) is also common, and probably the original form. It s not true that all whites have the same head form. Not at all. http://www.stormfront.org/archive/t-117398
Extractions: In the end it has virtualy nothing to do with nordic or not it has something to do with PERFECT semetrical WHITE features and skull size. "Beauty" plays a fundamental key role there = the more symetrical and perfect shaped, the more "beautiful" it is to most people. Widukind Well may i remind you that all white people (expect alpine and half alpine mixed types) have virtualy the same skull shapes within a small broadrange form individual to individual of course.
Stormfront White Nationalist Community As to physical type my family naturally tends to be tall and thin with a strong skeletal frame, and with dolicocephaly (longheaded). http://www.stormfront.org/archive/t-121482
Extractions: For those of you who don't know, the Rh factor signifies the presence or absence of rhesus monkey proteins in the blood. If you have a "positive" blood type, then your blood contains the rhesus proteins. If your blood is a "negative" type, then your blood has no rhesus proteins. Now, the presence of rhesus "monkey" proteins in the blood do not necessarily mean that Rh+ people are simians. But it could be a clue to mankind's relation to the primate family of animals. So if all humans are related to or descended from primates, then why are there people who have no "monkey" proteins in their blood at all?
PEDIATRICS scaphocephaly=dolicocephaly premature closure of the sagital suture. brachi coronal. trigonal metopic. occicephaly lambdoid. clover leaf coronal, lambdoid. http://radiologynotes.servehttp.com/peds/pediatrics.htm
CCDD: References: Links: Syndromes III. Sagittal Synostosis Homepage, Scaphocephaly, dolicocephaly, sagittal craniostenosis, or sagittal craniosynostosis. Stickler Involved http://www.hopkinsmedicine.org/craniofacial/References/LinkList.cfm?Category=All
Chromosome 18, Tetrasomy 18p In addition, affected infants may have distinctive craniofacial abnormalities, such as an unusually long, narrow head (dolicocephaly) with a prominent back http://www.bchealthguide.org/kbase/nord/nord1031.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Chromosome 18, Tetrasomy 18p is a very rare chromosomal disorder in which the short arm of the 18th chromosome (18p) appears four times (tetrasomy) rather than twice in cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two 18th chromosomes, both of which have a short arm ("18p") and a long arm ("18q"). However, in individuals with Chromosome 18, Tetrasomy 18p, four short arms (18ps) are present in cells of the body rather than the normal two. The symptoms of Chromosome 18, Tetrasomy 18p may vary from case to case. Many affected individuals may have abnormalities of the head and facial (craniofacial) area; malformations of the spine, hands, and/or feet; neuromuscular abnormalities, such as increased muscle tone (hypertonia), increased reflex reactions (hyperreflexia), and difficulty coordinating movement; kidney (renal) malformations; and/or additional physical abnormalities. In addition, children and adults with Chromosome 18, Tetrasomy 18p often exhibit moderate to severe mental retardation, limitations in speech, and/or behavioral abnormalities. In most cases, Chromosome 18, Tetrasomy 18p is the result of a spontaneous (de novo) genetic change (mutation) early in embryonic development that occurs for unknown reasons (sporadic).
Three M Syndrome Specialized xray studies may detect, confirm, and/or characterize certain craniofacial malformations (eg, dolicocephaly, maxillary hypoplasia) as well as http://www.bchealthguide.org/kbase/nord/nord150.htm
Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Three M syndrome is an extremely rare inherited disorder characterized by low birth weight, delayed bone age, and short stature; characteristic malformations of the head and facial (craniofacial) area; and/or finger (digital) and/or skeletal malformations In most cases, infants with Three M syndrome are unusually small and have a low birth weight despite being carried to term. This is due to growth delays during fetal development (intrauterine growth retardation). Growth delays and immature bone development (growth retardation and delayed bone maturation) typically continue after birth (postnatally), leading to short stature (dwarfism) with proportional development of the arms and legs (as opposed to short stature with abnormally small arms and legs [short-limbed dwarfism]).
Bloom Syndrome Characteristic facies keel-shaped face, dolicocephaly, narrow cranium, malar hypoplasia, nasal prominence, small mandible, and prominent ears. http://www.genesoc.com/counseling/Outlines/Bloom.htm
Extractions: Resources for Genetic Counselors site updated May 10, 2004 outlines links search Bloom Syndrome March 2003 Genetics Mutation of BLM gene at chromosome 15q26.1 Common Ashkenazi Jewish mutation- blm ASH Abnormalities in DNA repair and chromosomal structure increased chromosome breakage increased rate of homologous chromosome exchange- formation of quadriradial (QR) configuration in mitosis increased rate of sister chromatid exchanges (SCEs) unique to Bloom Syndrome Incidence Ashkenazi Jewish population Carrier frequency 1 in 107 Incidence 1/160,000 Very rare in Non-Ashkenazi Jewish populations Diagnosis Characteristic clinical features Demonstration of symmetric QR interchange configuration and increased number of SCEs Demonstration of mutations in both BLM genes Clinical Features Predominant features Small body size o Mean birth weight 1906 g in males and 1810 g in females o Mean adult height 147.5 cm in males and 138.6 cm in females
Marfan Syndrome Specific facies dolicocephaly, malar hypoplasia, retrognathia, down slanting palpebral fissures, deep set eyes, palate can be highly arched. http://www.genesoc.com/counseling/Outlines/marfansyndrome.htm
Extractions: Resources for Genetic Counselors site updated May 10, 2004 outlines links search Marfan Syndrome Introduction and contracting: What is your understanding of why you were referred to genetics What are your main concerns Explain that they are there to determine if they might have a genetic condition called Marfan syndrome and give overview of Marfan Outline session: I will begin by taking a family history She and Dr. Doktour will perform a physical examination We will then discuss whether or not we believe a diagnosis can be made or if there are other tests that need to be performed If a diagnosis is made we will discuss Marfan syndrome in more detail We will also answer any questions you have Overview of Marfan syndrome: A heritable disorder of the connective tissue that affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. The condition affects both men and women of any race or ethnic group occurs in 1-2 people per every 10, 000 high degree of clinical variability ocular findings: myopia, displacement of the lens, retinal detachment, glaucoma, early cataract formation
