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         Intrauterine Dwarfism:     more detail

41. Seckel Syndrome,Bird-Headed Dwarfism Seckel Type,Microcephalic
Seckel Syndrome,BirdHeaded dwarfism Seckel Type,Microcephalic delays priorto birth (intrauterine growth retardation) resulting in low birth weight.
http://www.icomm.ca/geneinfo/seckel.htm

42. TheFetus.net - Microcephalic Osteodysplastic Primordial Dwarfism, (Type I-III) -
5 Majewski F, Stoeckenius M, Kemperdick H Studies of microcephalic primordialdwarfism III an intrauterine dwarf with platyspondyly and anomalies of
http://www.thefetus.net/page.php?id=360

43. TheFetus.net - Dyssegmental Dysplasia Of The Silverman-Handmaker Type -Gary M. J
An intrauterine fetal demise was confirmed. The patient was indu­ced and The antenatal diagnosis of shortlimbed dwarfism is usually made in one of two
http://www.thefetus.net/page.php?id=347

44. %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

45. %210730 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III
Proportionate dwarfism; Other; intrauterine growth retardation. HEAD AND NECK,Head; Microcephaly; Delayed closure of fontanelles; Face;
http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:210730] -e

46. Kprones BLO10002
growth dwarfism intrauterine growth retardation; birth weight below 2.3 kg;mean length 44 cm; adult length 145 cm. skin hyperpigmented (cafÈ au
http://www.infobiogen.fr/services/chromcancer/Kprones/BLO10002.html
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Home Genes Leukemias Solid Tumours ... NA
Bloom syndrome
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.
- growth : dwarfism: intrauterine growth retardation; birth weight: below 2.3 kg; mean length: 44 cm; adult length < 145 cm.
- skin: hyperpigmented (cafÈ au lait) spots; hypopigmented areas; sun sensitive telangiectatic erythema; in butterfly configuration across the face: resembles lupus erythematous
- head: microcephaly; dolichocephaly; narrow face; prominent nose and/or ears; characteristic high-pitched voice

47. 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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48. Arch Pediatr Adolesc Med -- Abstract: 3-M Slender-boned Nanism. An Intrauterine
3M slender-boned nanism. An intrauterine growth retardation syndrome The mainfeatures were low birth weight, disproportionate dwarfism, large head for
http://archpedi.ama-assn.org/cgi/content/abstract/135/10/905
Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress
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
3-M slender-boned nanism. An intrauterine growth retardation syndrome
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

49. 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=

50. 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=

51. Dwarfism
HARMONIC dwarfism. Familial low height. intrauterine growth defect. hypopituitarism Cushings syndrome. Exogenous steroid therapy. precocious puberty
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/DWARFISM.asp

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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
FS
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52. 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

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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
DR
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53. 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
OBGYN.net Ultrasound: Case of the Month May 1998
Seckel Syndrome: A Case Study of Prenatal Sonographic Diagnosis
by Victoria Alderman, MA, RDMS OBGYN.net Ultrasound Advisory Board Member
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.

54. 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
I NTERNATIONAL C LASSIFICATION OF D ISEASES This data is published to be used by HiDoctor'98 users
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259 Other endocrine disorders
259.0 Delay in sexual development and puberty, not elsewhere classified
Delayed puberty
259.1 Precocious sexual development and puberty, not elsewhere classified
Sexual precocity:
NOS
constitutional
cryptogenic
idiopathic
259.2 Carcinoid syndrome
Hormone secretion by carcinoid tumors
Note: Not to be used as the primary code for carcinoid tumor.
See note at beginning of Chapter III.
259.3 Ectopic hormone secretion, not elsewhere classified
259.4 Dwarfism, not elsewhere classified
Dwarfism:
NOS
constitutional
Excludes: dwarfism: achondroplastic (756.4) intrauterine (759.7) nutritional (263.2)

55. Dwarfism Midget Short Stature Growth Hormone Defects Skeletal Dysplasia
Short Stature dwarfism growth hormone defects midget nanism skeletal dysplasia . Postnatal growth and, to a much lesser degree, intrauterine growth are
http://ibis-birthdefects.org/start/shortsta.htm
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Page Includes: Growth Hormone Defects
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[S] Short Stature
from Medline plus Health Information Medical Encyclopedia A relative term used in referring to any person that is more than two standard deviations below the average height (approximately in the shortest 5%) for a person of the same age and sex ... Short stature may be a symptom caused by a medical condition and, as many of these conditions are treatable, should be evaluated by a health care provider. Common causes: - familial short stature ... - delayed puberty ... - ... hypothyroidism ... - achondroplasia ... - Noonan syndrome ... There may be other causes of short stature ... Furthermore, the causes may vary based on age and gender of the affected person ... Dwarfism - What is it?

56. 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
Orphanet database access
Camptodactyly syndrome, Guadalajara type 2
Direct access to data Summary
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
  • Autosomal recessive inheritance
  • Camptodactyly
  • Delayed bone age
  • Low set ears
  • Short foot/brachydactyly of toes
  • Short neck
  • Short stature/dwarfism
  • Abnormal vertebral size/shape
  • Flat palm
  • Ptosis
  • Scoliosis
  • Absent/diminished abdominal musculature
  • Long/thick lashes
  • Microphthalmos
  • Spina bifida occulta
Update : 04/09/2005
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57. Short Height Specialist Doctor Delhi Treatment India Increasing New Noida Best Q
What is short Height (dwarfism) ie short height is defined when child is short Progeria ,• intrauterine growth retardation Psychosocial dwarfism
http://www.diabetesthyroidhormone.com/shortheightcauses.htm
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short height due to Growth hormone deficiency
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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

58. 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

59. 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
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60. 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
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