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Topic: Boomerang dysplasia

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Epimetaphyseal skeletal dysplasia

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	Medical Dictionary: Boomerang dysplasia - WrongDiagnosis.com
		Boomerang dysplasia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Boomerang dysplasia, or a subtype of Boomerang dysplasia, affects less than 200,000 people in the US population.
		They list Boomerang dysplasia as a "rare disease".
	www.wrongdiagnosis.com /medical/boomerang_dysplasia.htm (198 words)

	DBGET Result: OMIM 112310
		MIM Entry: 112310 Title: #112310 BOOMERANG DYSPLASIA Text: A number sign (#) is used with this entry because of evidence that boomerang dysplasia can be caused by mutation in the FLNB gene (603381).
		Hunter and Carpenter (1991) described a patient with apparent manifestations of both type I atelosteogenesis (108720) and boomerang dysplasia and concluded that these disorders are 'part of a spectrum, probably reflecting a common etiology.' Greally et al.
		(2003) reported a male fetus with boomerang dysplasia that was diagnosed by ultrasound at 16 weeks of gestation.
	www.genome.ad.jp /dbget-bin/www_bget?omim+112310 (734 words)

	Endotext.com - Pediatric Endocrinology, Growth Failure Associated with Skeletal Disorders (Site not responding. Last check: 2007-10-30)
		A molecular-pathogenetic classification of skeletal dysplasias based on the structure and function of the causative gene and protein was recently proposed [2] (Table 2).
		Phenotype: This is a lethal type of skeletal dysplasia characterized by extreme shortening of the limbs, large bulging forehead with prominent eyes, small narrow thorax, which may result in respiratory problems, and congenital heart and CNS defects.
		Phenotype: This rare disorder is characterized by severe disproportionate short stature with mesomelic shortening of the limbs, hypoplasia of the mandible, ulnar deviation of the hands, distal tapering of the humeri, and hypoplastic fibula, radius and ulna (Figure 4).
	www.endotext.org /pediatrics/pediatrics2/pediatrics2.htm (4809 words)

	Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type ... (Site not responding. Last check: 2007-10-30)
		Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.
		We report on 2 cases of otopalatodigital syndrome type II (OPD II) with atypical skeletal changes, overlapping those of boomerang dysplasia, atelosteogenesis type I (AO I) and type III (AO III), and the lethal male phenotype of Melnick-Needles syndrome.
		OPD II is transmitted as an X-linked recessive trait, whereas AO I, AO III, and boomerang dysplasia are considered to result from a new dominant mutation, and Melnick-Needles syndrome is inherited as an X-linked dominant trait.
	www.ihop-net.org /UniPub/iHOP/gp/1302158.html (171 words)

	DBGET Result: OMIM 108720
		A second case also with giant chondrocytes on histologic examination of bone, severe laryngeal stenosis and lethal outcome appeared to have some other skeletal dysplasia, an as yet unclassified form of spondyloepiphyseal dysplasia.
		The disorder that has been called atelosteogenesis type II (Sillence et al., 1987) may be the same as de la Chapelle dysplasia (256050).
		Hunter and Carpenter (1991) reported a case of atelosteogenesis type I. They concluded that boomerang dysplasia (112310) and AOI are 'part of a spectrum, probably reflecting a common etiology.' In a male fetus with a lethal chondrodysplasia, Greally et al.
	www.genome.ad.jp /dbget-bin/www_bget?omim+108720 (757 words)

	TheFetus.net - Atelosteogenesis, type I -Nicolette S. den Hollander, MD, Patricia A. Stewart, PhD, Helen Brandenburg, ... (Site not responding. Last check: 2007-10-30)
		These cases were separated from diastrophic dysplasia, and atelosteogenesis type II was proposed for this entity.
		The differential diagnosis of a skeletal dysplasia such as diastrophic dysplasia and achondrogenesis was proposed.
		Atelosteogenesis I and boomerang dysplasia: a question of nosology.
	www.thefetus.net /page.php?id=336 (1456 words)

	Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia -- Odent et al. 36 ...
		Boomerang dysplasia (BD) is a lethal chondrodysplasia which was first reported by Kozlowski et al
		part of a spectrum of bone dysplasias with a possible common cause.
		Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and boomerang dysplasia.
	jmg.bmjjournals.com /cgi/content/full/36/4/330 (1120 words)

	OUP: UK General Catalogue
		Its main goal is to assist in the diagnosis of specific conditions and the care of affected individuals.
		Though mutations of specific genes can produce dysplasias with very different phenotypes and prognoses, the primarily clinical aim of this book dictated a phenotypic classification in general, with compromises on etiologic grounds where necessary.
		Since the attempt to diagnose a skeletal dysplasia from single signs, alone or in combination, is fraught with errors, the authors focus on basic patterns of skeletal abnormalities.
	www.oup.com /uk/catalogue/?ci=9780195214741 (626 words)

	Government and academic resources on Boomerang Dysplasia
		...bookstore bookworm booky boolean boom boomerang boon Boone boor boorish
		...booky boolean boom boomed boomerang boomerang's boomerangs booming booms
		...boolean boom boomed boomerang boomerangs booming booms boon boor boorish
	books.mongabay.com /health/conditions/Boomerang_Dysplasia.html (737 words)

	Boomerang dysplasia
		Boomerang dyplasia is a lethal syndrome with a major bone disorder that consists of short stature, short bowed rigid limbs with ossification defects and some absent bones (fibulae and radii) and characteristic facies (broad nasal root and hypoplasia of the nares and septum).
		Prenatal diagnosis is possible by ultrasonography.This syndrome is extremely rare as only 10 cases have been recorded so far.
		Hence, these two disorders seem to belong to the same pathological spectrum.
	www.orpha.net /static/GB/boomerang_dysplasia.html (90 words)

	Medical Dictionary: BD (Boomerang dysplasia) - WrongDiagnosis.com
		BD (Boomerang dysplasia) is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that BD (Boomerang dysplasia), or a subtype of BD (Boomerang dysplasia), affects less than 200,000 people in the US population.
		Terms that may be interchangeable with BD (Boomerang dysplasia):
	www.wrongdiagnosis.com /medical/bd_boomerang_dysplasia_.htm (176 words)

	Boomerang Dysplasia
		Unusual fan shaped ossification in a female fetus with radiological...
		Keywords: boomerang dysplasia; atelosteogenesis; lethal chondrodysplasia; lethal dwarfism © 1999 by J Med Genet...
		...rare skeletal dysplasias to consider including 'Boomerang' dysplasia, fibrochondrogenesis, schneckenbecken dysplasia, atelosteogenesis among...
	www.medicality.org.uk /diseases/boomerang-dysplasia.php (204 words)

	Mutations in FLNB cause boomerang dysplasia -- Bicknell et al. 42 (7): e43 -- Journal of Medical Genetics
		Mutations in FLNB cause boomerang dysplasia -- Bicknell et al.
		Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia,
		of mutations in FLNB in two unrelated individuals with boomerang
	jmg.bmjjournals.com /cgi/content/abstract/42/7/e43 (295 words)

	Table of contents for Library of Congress control number 2002027086
		Table of contents for Bone dysplasias : an atlas of genetic disorders of skeletal development / Jurgen W. Spranger, Paula W. Brill, Andrew K. Poznanski.
		Bibliographic record and links to related information available from the Library of Congress catalog
		Skeletal Dysplasias with Major Involvement of the Spine
	www.loc.gov /catdir/enhancements/fy0613/2002027086-t.html (117 words)

	Orthopaedics Syndromes Second Page
		BORK (1987) - ECTODERMAL DYSPLASIA; CATARACT; RETINAL DYSTROPHY
		CHRISTIAN (1977) - SKELETAL DYSPLASIA; MENTAL RETARDATION (X-LINKED)
		DONNAI-BARROW - DIAPHRAGMATIC HERNIA; EXOMPHALOS; ABSENT CORPUS CALLOSUM
	freeortho.com /syndromes2.html (1167 words)

	Tamison Jewett, MD
		Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23.
		Greally MT, Jewett T, Smith W, Penick G, Williamson R. Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis I and Boomerang dysplasia.
		Ginsberg L, Jewett T, Grubs R, McLean W, Oculodental digital dysplasia: neuroimaging in a kindred.
	www1.wfubmc.edu /Genomics/Faculty+Profiles/Tamison+Jewett.htm (612 words)

	Birth Disorder Information Directory - BO-BY
		Burton Syndrome (Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis)
		KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS
		Bustos Simosa Pinto Cisternas Syndrome (Ectodermal Dysplasia, Margarita Type)
	www.bdid.com /defectbo.htm (325 words)

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