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Topic: Acrofacial dysostosis Catania form

	ORPHANET - About rare diseases - About orphan drugs (Site not responding. Last check: 2007-09-29)
		Acrofacial dysostoses (AFD) are a heterogenous group of disorders combining defects of limb and mandibular/facial development.
		Mandibulofacial dysostosis is of varying severity, depending on the type of AFD.
		AFD catania type is a disorder of extremely rare occurrence (less than ten cases worldwide) with mild phenotype.
	www.orpha.net /consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1786 (169 words)

	Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome -- Dauwerse et al. 39 (2): 136 -- ...
		Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome -- Dauwerse et al.
		Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome
		Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies.
	jmg.bmjjournals.com /cgi/content/full/39/2/136 (3114 words)

	TheFetus.net - Post axial acrofacial dysostosis -Philippe Jeanty, MD, PhD
		The most common form is preaxial and it is called Nager acrofacial dysostosis.
		The postaxial form of acrofacial dysostosis (POADS = postaxial acrofacial dysostosis syndrome) is the Genee-Wiedemann or Miller syndrome.
		Etiology: 5 sets of sibs are suggestive of autosomal recessive inheritance[iv],[v] and only 1 occurrence of autosomal dominant postaxial acrofacial dysostosis syndrome is known.
	www.thefetus.net /page.php?id=435 (526 words)

	Medical Dictionary: Acrofacial dysostosis Catania form - WrongDiagnosis.com
		Acrofacial dysostosis Catania form is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Acrofacial dysostosis Catania form, or a subtype of Acrofacial dysostosis Catania form, affects less than 200,000 people in the US population.
		They list Acrofacial dysostosis Catania form as a "rare disease".
	www.wrongdiagnosis.com /medical/acrofacial_dysostosis_catania_form.htm (207 words)

	Untitled Document (Site not responding. Last check: 2007-09-29)
		Dauwerse JG y cols: Acrofacial dysostosis in a patient with the TSC2-PKD1 contigous gene syndromes.
		Tabith A, Bento-Gonçalves CGA: Laryngeal malformations in the Richieri-Costa and Pereira form of acrofacial dysostosis.
		Zori RT y cols: Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies.
	wellpath.uniovi.es /es/contenidos/seminario/pediatria/casos/html/060/bibliog.htm (225 words)

	[No title]
		The basis for this theory lies in recognizing that life consists of various forms of information (order) which evolve not only through genetic recombination and mutation, but also through the recombination of organisms within communities (as well as other mechanisms, some of which are considered beyond the realm of biology).
		Wild-type fission yeast cells divide by forming a septum in the middle of the cell at the end of mitosis.
		In wild-type cells, Dmf1p is nuclear during interphase, and relocates to form a medial ring at the cell cortex coincident with the onset of mitosis.
	www.lib.umich.edu /dentlib/nihcdc/searches/shuler/shuler1GENc-2.txt (18126 words)

	acrofacial dysostosis catania form (Site not responding. Last check: 2007-09-29)
		Sorge G, Milana G, Cimino G, Caltabiano M Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.
		Miller Syndrome, also known as postaxial acrofacial dysostosis, is an extremely rare genetic disorder...
		Cleidocranial dysostosis or cleidocranial dysplasia is syndrome consisting of delayed ossification of midline structures.
	www.kaninchenboardchat.de /acrofacial_dysostosis_catania_form.html (176 words)

	[No title]
		The degree of functional activity of the mutated forms of cathepsin K in these individuals has not been elucidated, but is predicted to be low or absent.
		The self-assignment according to A and B forms of osteogenesis imperfecta types I and IV in accordance with the presence/absence of dental symptoms was contradictory, since the literature was based on varying classifications.
		Comprehensive preventive dental care in the form of fluorides and sealants is required, especially in patients with severe hypodontia, to increase the resistance of the remaining teeth to dental caries.
	www.lib.umich.edu /dentlib/nihcdc/searches/shuler/shuler1DSd-1.txt (18851 words)

	Ultrasound Clinical Handbook - Browsing Documents
		There are at least 2 conditions that are described as acrofacial dysostoses:- Nager syndrome (preaxial acrofacial dysostosis) and Miller syndrome (also known as Wildervanck-Smith syndrome, Genee-Wiedemann syndrome and postaxial acrofacial dysostosis).
		However, there have also been some families reported with vertical transmission, suggesting an autosomal dominant pattern of inheritance.In Miller and Nager syndromes the face is similar to that in Treacher-Collins syndrome (mandibulo-facial dysostosis) with zygomatic hypoplasia resulting in downslanting palpebral fissures, lower lid colobomas (in 20% of cases) and absent lower lid eyelashes.
		Title: Postaxial acrofacial dysostosis (Miller) syndrome: a new case.
	www.pear.co.nz /asum/doc.php?d=294 (386 words)

	Medical Dictionary: ACD (Acrofacial dysostosis Catania form) - WrongDiagnosis.com
		ACD (Acrofacial dysostosis Catania form) is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that ACD (Acrofacial dysostosis Catania form), or a subtype of ACD (Acrofacial dysostosis Catania form), affects less than 200,000 people in the US population.
		Terms that may be interchangeable with ACD (Acrofacial dysostosis Catania form):
	wrongdiagnosis.com /medical/acd_acrofacial_dysostosis_catania_form_.htm (184 words)

	Acrofacial dysostosis Catania form - Indopedia, the Indological knowledgebase (Site not responding. Last check: 2007-09-29)
		Acrofacial dysostosis Catania form - Indopedia, the Indological knowledgebase
		Search for Acrofacial dysostosis Catania form in other articles
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	www.indopedia.org /Acrofacial_dysostosis_Catania_form.html (67 words)

	Ultrasound Clinical Handbook - Browsing Documents
		However, there have also been some families reported with vertical transmission, suggesting an autosomal dominant pattern of inheritance.In both Nager and Miller syndromes the face is similar to that in Treacher-Collins syndrome (mandibulo-facial dysostosis) with zygomatic hypoplasia resulting in downslanting palpebral fissures, lower lid colobomas (in 20% of cases) and absent lower lid eyelashes.
		Title: Nager acrofacial dysostosis: Autosomal dominant inheritance in mild to moderately affected mother and lethally
		Title: Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome.
	www.pear.co.nz /asum/doc.php?d=295 (445 words)

	Acrofacial Dysostosis Preis Type
		Acrofacial dysostosis Catania form[?] Acrofacial dysostosis Preis type[?] Acrofacial dysostosis Rodriguez type[?]
		Definition of Acrofacial dysostosis Preis type in an online ecyclopedia or dictionary.
		Acrofacial dysostosis, Nager type Acrofacial dysostosis, palagonia type Acrofacial dysostosis postaxial Acrofacial dysostosis, Preis type...
	www.medicality.org.uk /diseases/acrofacial-dysostosis-preis-type.php (128 words)

	Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1 -- Hedera ...
		Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1 -- Hedera et al.
		Mild mandibulofacial dysostosis in a child with a deletion of 3p.
		Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia.
	jmg.bmjjournals.com /cgi/content/full/39/7/484 (2155 words)

	CCDD: Scientist: Publications (Site not responding. Last check: 2007-09-29)
		Burrows, A.M., Cole, T.M. III., Mooney, M.P., Smith, T.D., Losken, H.W., and Siegel, M.L. Mandibular form in a rabbit model of familial, nonsyndromic coronal suture synostosis.
		Wulfsberg, E.A., Campbell, A.B., Lurie, I.W., and Eanet, K.R. Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family.
		Semenza, G.L., Wang, G.L., and Kundu, R. DNA binding and transcriptional properties of wild-type and mutant forms of the homeodomain protein Msx2.
	www.hopkinsmedicine.org /craniofacial/References/Publications.cfm?Category=Scientist (6176 words)

	Links to 2,060 Medical and Biomedical Glossaries & Dictionaries online in 23 languages
		Unfortunately, it is marred by many minor errors in grammar and punctuation, such as this: “A compound formed by the union of two compound's and easily converted to the original compound's (hydrolysis)”; and “Fine collagenous fiber's in the matrix of osseous tissue.” and “used as a diagnostic aid in heptatic function determination.”
		Plurals in English are NOT formed with an apostrophe, not even in the UK or in NZ.
		21 English links from the Finnish Information Center on Mental Retardation: includes links to sites on: Aarskog Syndrome; Abidi X-linked Mental Retardation Syndrome; Åkesson syndrome; Acrodysostosis (Arkless-Graham syndrome); Catania type Acrofacial dysostosis; Addison-Schilder syndrome; Alagille Syndrome; Albright hereditary osteodystrophy; Anisomastia; Arakawa syndrome; Axenfeld-Rieger syndrome; and hundreds more.
	www.interfold.com /translator/medlinks.htm (9999 words)

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