%210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (1982) described a form of intrauterine and postnatal dwarfism with microcephalyand facial features resembling those of Seckel syndrome (210600) but with http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:210720] -e
Extractions: Home Genes Leukemias Solid Tumours ... NA Identity Inheritance autosomal recessive; frequency is about 2/10 newborns in Ashkenazi Jews and in the Japanese (founder effect: affected persons descent from a common ancestor); much rarer otherwise micronuclei (left); sister chromatid exchange (right) in a normal subject (herein: 19 SCE, instead of the hundred found in Bloom, see below) - Editor Clinics Note 168 cases have been registered in the Bloom's syndrome Registry by James German; BS patients are predisposed to all types of cancer observed in the general population; thus, BS is a model of initiation and promotion of cancer, and highligths internal causes/processes of cancers Phenotype and clinics - phenotypic spectrum variable.
Blackwell Synergy - Cookie Absent The syndrome is characterized by severe intrauterine and postnatal growthretardation with proportional dwarfism, typical beaklike triangular nose, http://www.blackwell-synergy.com/doi/abs/10.1111/j.1460-9592.2005.01428.x
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Extractions: Vol. 135 No. 10, October 1981 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager Articles in PubMed by Cantu JM Nazara-Cazorla Z Contact me when this article is cited J. M. Cantu, D. Garcia-Cruz, J. Sanchez-Corona, R. Fragoso, A. Hernandez and Z. Nazara-Cazorla Three sisters with 3-M slender-boned nanism are described. The main features were low birth weight, disproportionate dwarfism, large head for height, triangular-shaped face with wide anteverted nostrils, long philtrum and full lips, short neck, elbow malformation, pes planus with prominent heels, slender bones with thin diaphyses, small pelvis, and mild mental
Karger Publishers 6 Russell A A syndrome of intrauterine dwarfism recognisable at birth withcraniofacial dysostosis, disproportionately short arms, and other anomalies. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=
Karger Publishers 1 Russell A A syndrome of intrauterine dwarfism recognisable at birth withcraniofacial dysostosis, disproportionately short arms and other anomalies. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=
Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Dwarfism, In harmonic dwarfism neuroradiological interest is focused particularly on hypopituitarism and MR imaging of the sellar region is suggested as specific anomalies may be identified. Other items of neuroradiological interest are coeliac sprue precocious puberty and Cushings syndrome , the cause of which again may reside in identifiable hypothalamic/hypophyseal pathology. In disharmonic dwarfism, he diagnosis can often be established by clinical phenotypic features. Among the causes of disharmonic dwarfism, achondroplasia presents particular features that merit neuroradiological investigation and these are discussed in their specific sections (see achondroplasia ). Table 1 presents most frequent causes in the two settings. Dwarfism, Table 1. Principal causes of dwarfism. HARMONIC DWARFISM Familial low height Intrauterine growth defect hypopituitarism Cushings syndrome Exogenous steroid therapy precocious puberty Laron's syndrome Cardiopulmonary diseases Coeliac disease , and other types of malabsorption DISHARMONIC DWARFISM Osteochondrodysplasia Achondroplasia Hypothyroidism Seckel's syndrome Russel's syndrome Chromosomal anomalies Gonadic dysgenesis Turners syndrome Mosaicism Trisomy syndrome Downs syndrome
Dwarfism intrauterine infections. Systemic inflammatory diseases Different types ofdwarfism are described more fully under the names of specific dysplasias, http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/DWARFISM.asp
Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Dwarfism, smallness of stature from various causes (Table 1). For a general description, see dwarfism Dwarfism, Table 1. Some causes of short stature. Endocrine disorders Hypopituitarism Hypothyroidism Diabetes mellitus Hypercortisolism Congenital adrenal hyperplasia Deficient somatomedin production (Laron dwarfism) Chronic disorders of major organ systems Chronic renal disease Congenital heart disease Juvenile chronic arthritis Sickle cell anaemia Malabsorption syndromes Skeletal disorders Achondroplasia Osteochondrodysplasia Pseudohypoparathyroidism and pseudopseudohypoparathyroidism Rickets Chromosomal aberrations Gonadal dysgenesis Trisomy conditions Miscellaneous disorders Malnutrition Familial short stature Inborn errors of metabolism Intrauterine infections Systemic inflammatory diseases Renal tubular disorders Psychosocial dwarfism Neurologic disorders Different types of dwarfism are described more fully under the names of specific dysplasias osteochondrodysplasias and Hypopituitarism
OBGYN.net Ultrasound Section - May Case Study Seckel syndrome is a form of primordial dwarfism with a set of primary diagnostic The primary diagnostic features are; severe intrauterine growth http://www.obgyn.net/us/cotm/9805/cotm9805.htm
Extractions: Baylor College of Medicine, Houston, TX Seckel Syndrome is a rare (<1:10,000) constellation of malformations, presumably inherited as an autosomal-recessive trait. The primary characteristic features of Seckel Syndrome (SS) include; severe intrauterine growth restriction, microcephaly, orofacial dysmorphology with characteristic "bird-headed" appearance, and mental retardation. Case Report The patient is a 43 year old gravida 5, para 3, with a history of a child diagnosed with SS . The effected child died at the age of three years secondary to respiratory complications sustained under general anesthesia during a minor surgical procedure. The patient presented for ultrasound evaluation and genetic amniocentesis at 15.0 weeks gestation by menstrual history. Ultrasound demonstrated a normal appearing female fetus. Fetal biometry was consistent with 15.0 weeks gestation, with all parameters equal to the mean for gestational age. Menstrual dates were therefore confirmed as accurate. Genetic amniocentesis was performed without complications. In light of the patient's history of an SS effected child, repeat ultrasound evaluation were recommended to monitor fetal growth. Chromosomal analysis showed a normal 46,XX karyotype. Subsequent ultrasound examinations are summarized below.
International Classification Of Diseases, Icd-9, Code 259.4 dwarfism, not elsewhere classified. dwarfism NOS constitutional Excludesdwarfism achondroplastic (756.4) intrauterine (759.7) nutritional (263.2) http://www.centralx.com/diseases/icd232.htm
Camptodactyly Syndrome, Guadalajara Type 2 aged 6 and 3 years, presenting intrauterine growth retardation, dwarfism,camptodactyly of all fingers, bilateral hallux valgus, short toes 2, 4 and 5, http://www.orpha.net/static/GB/camptodactyly_syndrome.html
Extractions: A camptodactyly syndrome, called guadalajara type 2 was described by Mexican geneticists in two sisters only, aged 6 and 3 years, presenting intrauterine growth retardation, dwarfism, camptodactyly of all fingers, bilateral hallux valgus, short toes 2, 4 and 5, patella hypoplasia, short neck, low-set ears, microcephaly, cuboid vertebral bodies. An autosomal recessive mode of inheritance is likely. *Author : Dr E. Robert-Gnansia (May 2004)*. Clinical signs Update : 04/09/2005 Orphanet database access
Extractions: Other important information What is short Height Dwarfism) i.e. short height is defined when child is short compared to others, the moment you feel your child is shorter than others you should consult the doctor immediately otherwise later you may not have enough time for treatment. Causes Familial short stature (genetic),Constitutional delayed growth with or without delayed puberty, Skeletal dysplasia : (achondroplasia, Hypochondroplasia), Chromosomal abnormality : Turners Syndrome, Down Syndrome ,Dysmorphic syndromes (Primordial dwarf) Russel Silver Syndrome,Noonan Syndrome , Praderwilli Syndrome ,Pseudohypoparathyroidism
Dwarfism.org - Support Organizations dwarfism information, resources and community support. For families withchildren who have Russell Silver intrauterine growth retardation. http://www.dwarfism.org/index.php?option=com_content&task=view&id=4&Itemid=61
Ultrasound Quarterly - UserLogin intrauterine fetal death, perinatal mortality, dwarfism, or any other type of The genetics of thanatophoric dwarfism. Pediatrics 1973; 511048. http://www.ultrasound-quarterly.com/pt/re/ultrasoundq/fulltext.00013644-20011200
Current Opinion In Pediatrics - UserLogin phenotype of LeriWeill dyschondrosteosis and Langer mesomelic dwarfism.intrauterine growth of the fetus with gonadal dysgenesis reflects the number of http://www.co-pediatrics.com/pt/re/copeds/fulltext.00008480-200108000-00009.htm