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Topic: Hypoplasia of the tibia with polydactyly

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	Radial Hypoplasia and Femoral Hypoplasia
		Femoral Hypoplasia is reported much more rarely and is the failure of the long bones of the hind leg to grow properly.
		Femoral Hypoplasia is better described in humans (in the form known as Femoral Hypoplasia-Unusual Facies Syndrome, or FH-UFS) and is also known as Femoral Aplasia (absence of femur) and Femoral Agenesis.
		In humans, it is described as bilateral (both sides) femoral hypoplasia with associated facial dysmorphism (face wrongly shaped) involving a short broad-tipped nose, long philtrum (groove in the middle of upper lip), a thin upper lip and micrognathia (small jaw - Elfie has an unusually narrow jaw).
	www.messybeast.com /hypoplasia.htm (1243 words)

	Skeleton - DIAGNOSIS OF FETAL ABNORMALITIES - THE 18-23 WEEKS SCAN
		This is a heterogeneous disorder, characterized by vertebral and rib abnormalities (misalignment of the cervical spine and ribs).
		Polydactyly is the presence of an additional digit, which may range from a fleshy nubbin to a complete digit with controlled flexion and extension.
		Central polydactyly, which consists of an extra digit (usually hidden between the long and the ring finger), is often bilateral and is associated with other hand and foot malformations; it is inherited with an autosomal mode of inheritance.
	www.centrus.com.br /DiplomaFMF/SeriesFMF/18-23-weeks/chapter-09/skeleton.html (3214 words)

	Rapid Recovery Hyperbarics : Research References
		Hypoplasia of the ulna and the ulnar aspect of the hand is more rare than a radial club hand.
		The tibia is usually in a varus alignment due to the infant's normal intrauterine position.
		Posteromedial bowing of the tibia presents with a significant angular deformity of the distal tibia with the foot positioned against the lower leg.
	www.hbot4u.com /infants13.html (2031 words)

	eMedicine - Ellis-van Creveld Syndrome : Article by Harold Chen
		Polydactyly and hypodontia have been described in Weyers acrodental dysostosis, which is allelic with EVC and in trisomy 13.
		Fetoscopy may be performed to visualize the fetus with postaxial polydactyly, short distal limbs, and postaxial polydactyly.
		Level II ultrasonography after 18 weeks' gestation is used to reveal a narrow chest, postaxial polydactyly, short limbs (especially of middle and distal segments), and a single atrium.
	www.emedicine.com /PED/topic660.htm (1996 words)

	Nemours.org - Nemours.org - Skeletal Dysplasia - Chondro-ectodermal Dysplasia, Ellis-van Creveld Syndrome (Site not responding. Last check: )
		In young childhood, the epiphyseal ossification center is adjacent to the middle portion of the tibial metaphysis.
		The middle phalanges are short and broad; hypoplasia of the distal phalanges is typical.
		In the older child nearing the end of growth, an alternative strategy is to slow down growth of the inner aspect of the tibia by a metal staple or stop growth completely by surgical removal of the growth plate.
	www.nemours.org /internet?url=no/dysplasia/chondro.html (704 words)

	Polydactyly In Humans and Other Species
		One effect of this is triphalangeal preaxial polydactyly (like Twisty Cats), 6 to 9 toes on fan-like feet, dwarfing, twisted and/or thickened limbs, short or missing tibia/radius, kinked tail, flattened ribcage and short, bulbous head.
		Breeds where the polydactyly trait is encouraged are those bred for working on snowy or uneven ground where extra grip is required.
		In horses, polydactyly has occasionally appeared in the form of small supernumerary digits terminating in hooves either side of the main hoof; these resemble the horse's evolutionary ancestors hence older texts refer to such mutations as atavism (throwback hrowback to ancestral stock).
	messybeast.com /poly-species.html (2108 words)

	[No title] (Site not responding. Last check: )
		Since the tibia may be late in ossifying, it is not certain that this trait is different from that listed as tibia, absence of, with polydactyly (188740).
		Canki (1977) described mother and daughter with postaxial polydactyly, hypoplasia of the tibia, and unusually depressed nasal tip due apparently to hypoplasia of the major alar cartilages.
		Werner (1915) reported the case of a 21-year-old woman with polydactyly of the hands, digitalization of the thumb, short lower limbs with aplasia of the tibias, and polydactyly of the toes.
	zeta.embl-heidelberg.de:8000 /srs5bin/cgi-bin/wgetz?-e+[omim-id:188770] (1111 words)

	Thalidomide Victims Association of Canada - Recognition of Thalidomide Defects
		Next most common is hypoplasia of the thumb and thenar muscles: those small, thin thumbs are commonly fused in part to the adjacent index finger.
		The tibia may be the only long bone to be affected, but the femur is often affected as well, and if the tibia is significantly shorter than normal, the fibula has no option but to be short or bent.
		In contrast to the femur, the tibia tends to be affected first at its lower end, compromising the integrity of the ankle joint.
	www.thalidomide.ca /en/information/recognition_of_defects.html (5139 words)

	BD Glossary (Site not responding. Last check: )
		Agenesis, aplasia, or hypoplasia of the lung The absence or incomplete development of a lung or lung tissue.
		Hypoplasia A condition of arrested development in which an organ or part remains below the normal size or in an immature state.
		Hypoplastic left heart syndrome Atresia, or marked hypoplasia, of the aortic opening or valve, with hypoplasia of the ascending aorta and defective development of the left ventricle (with mitral valve atresia).
	www.dshs.state.tx.us /birthdefects/glossary.shtm (2527 words)

	TheFetus.net - Femoral hypoplasia - unusual facies syndrome -Elke Sleurs, MD, Luc De Catte, MD
		Femoral —facial syndrome is a rare syndrome characterized by bilateral femoral hypoplasia and facial dysmorphism with a short broad-tipped nose, long philtrum, a thin upper lip and micrognathia[1].
		Differential diagnosis was proximal femoral deficiency syndrome or femoral hypoplasia —unusual facies syndrome.
		asymmetric abnormalities of upper and lower limbs: hypoplasia or aplasia of the femur and fibula, absence of fingers until absence of arms, para-axial hemimelia of the ulna and fibula of the humerus.
	www.thefetus.net /page.php?id=348 (1037 words)

	Medcyclopaedia - Congenital anomalies
		Polydactyly is an abnormality of the hand or foot in which there are extra digits or extra portions of digits such as phalanges or metacarpals.
		Polydactyly may be seen as an isolated finding, either sporadic or familial.
		Postaxial polydactyly of the hand is a common normal variant particularly in individuals of African origin in whom it is inherited as autosomal
	www.medcyclopaedia.com /library/radiology/chapter14/14_6.aspx (1704 words)

	[No title] (Site not responding. Last check: )
		(4) Interestingly, McCusick ascribes it to a hypoplasia of the distal ulna.
		In humans, hypoplasia or aplasia of the radius, usually with associated anomalies of the hand, is the most common of this type of abnormality.
		In humans, preaxial polydactyly involves an additional digit or digits cranial to the anatomical axis of the limb, that is, on the thumb or great toe side.
	cal.vet.upenn.edu /saortho/chapter_57/57mast.htm (8575 words)

	Associated Conditions (Site not responding. Last check: )
		Zygoma Hypoplasia: Underdevelopment of the cheek bone and muscles of mastication (chewing food in preparation for swallowing and digestion) and facial expression.
		Clubbing of fingers: A condition affecting the fingers in which proliferation of distal tissues, especially the nail beds, result in thickening and widening of the extremities of the fingers; the nails are abnormally curved and shiny.
		Abnormal tibia: The center and larger of the two bones of the leg.
	www.goldenharsyndrome.org /associated_conditions.htm (1401 words)

	The Turkish Journal of Pediatrics
		This type is characterized by hypoplasia in vertebrae and iliac bones, in addition to the characteristic properties of SRPS.
		The Verma-Naumoff type was first published in 1983 as a subtype of Type I, since most of its characteristics are the same as those of Type I. It differs from Type I as the bones of the extremities and the iliac bones show better ossification, and visceral organ anomalies occur less often2.
		Generally, hypoplasia of the larynx and epiglottis, cleft lip and cleft palate are not observed in this type.
	tjp.dergisi.org /text.php3?id=109 (1415 words)

	FEMORAL HYPOPLASIA - Parents Group - Syndrome Description
		The syndrome includes bilateral femoral hypoplasia; facial dysmorphism with a cleft palate, micrognathia, a long philtrum, a thin upper lip, and a short broad-tipped nose; dysplasia of the hips; and hypoplasia of the fibulae.
		This report re-emphasises the previously described rare association of femoral hypoplasia-unusual facies syndrome with preaxial polydactyly and suggests that the clinical spectrum of the syndrome could be stretched further to accommodate other unusual traits, for example, macrophallus and absent tibia.
		Preaxial polydactyly of the foot is an unusual feature in femoral hypoplasia unusual facies syndrome, having been recorded with certainty in only two previous reports.
	home.mchsi.com /~deering9/fh/descripfh.html (1776 words)

	Equine Orthopaedic Research Center Overview, Colorado State University
		Correlation analysis revealed moderate to strong relationships between long bone lengths (humerus, radius, third metacarpal, femur, tibia and third metatarsal) and wither height for all ages.
		Diaphyseal deviation, agenesis and polydactyly are rare and have various presentations.
		Increase in the carpal angle (more in at the knee or carpal valgus), may serve as a protective mechanism, as the odds of a carpal fracture and carpal effusion decrease with an increase as the carpal angle viewed from the front.
	www.equineortho.colostate.edu /questions/conformation.htm (5808 words)

	Bone Dysplasias
		The proximal tibias are also a bit odd due to a prior bilateral high tibial osteotomies.
		Clinical: A congenital disorder of bone formation with clavicular hypoplasia or agenesis with a narrow thorax, allowing approximation the shoulders in front of the chest occurring with delayed ossification of the skull, excessively large fontanelles, and delayed closing of the sutures.
		The pelvis exhibits narrow iliac wings, hypoplasia of the pubic bones, and bilateral coxa vara.
	www.teambone.com /chapters/peds/dysplasia/dysplasia.html (4612 words)

	SonoCredits.com: Sono CME certification credits for Sono technicians and professionals
		The ultrasound evaluation of the feet and hands can be performed to look for their presence or absence, to assess the number of digits, and to look for polydactyly or syndactyly.
		Polydactyly, cleft lip and palate, and renal anomalies have also been reported (figure 6).
		This is a group of autosomal recessive disorders that are lethal and all consist of short limbs, a constricted thorax, and postaxial polydactyly.
	e-edcredits.com /sonocredits/article.asp?TestID=37 (3229 words)

	Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene ...
		Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36 -- Zguricas et al.
		Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36
		polydactyly to be an autosomal dominant disease with a gene frequency
	jmg.bmj.com /cgi/content/full/36/1/33 (4569 words)

	Korean Journal of Radiology
		TD has been subdivided into two categories: type I is more common and is characterized by curved long bones (with a 'telephone receiver' appearance) and severe platyspondylia, usually without a cloverleaf skull, while in type II, long bones are relatively straight, platyspondylia is less severe, and a cloverleaf skull is usually present (3).
		Ellis-van Creveld (chondroectodermal) dysplasia is characterized by the presence of short ribs, short limbs, postaxial polydactyly, and ectodermal abnormalities of the hair, nails, and teeth (15).
		The proximal portion of the femurs and the distal portion of the tibias are usually bent, and the long bones are shortened, with ventral convex bowing (Fig.
	www.kjronline.org /abstract/view_articletext.asp?year=2002&page=113 (2929 words)

	LPA Medical Resource Center -- Glossary
		In a child with knock knees though, when the knees touch, the ankles are separated by a good distance.
		bowlegged; curvature of the legs resulting in increased space between the knees usually due to the overgrowth of the fibula in relation to the tibia.
		The fibula "bows" in order to accommodate for the shorter tibia.
	medical.lpaonline.org /glossary (2705 words)

	Chondroectodermal Dysplasia
		Prior to her presentation in our clinic she was seen and evaluated by a cardiologist for an apparent congenital heart murmur.
		Polydactyly in the feet is a rare finding.
		The lip deformity, often referred to as a "partial hairlip", results from an abnormally short upper lip which may also be sunken secondary to hypoplasia of the maxilla.
	gait.aidi.udel.edu /res695/homepage/pd_ortho/educate/clincase/chnect.htm (749 words)

	Ultrasound and Screening for Chromosomal Abnormalities
		Abnormalities of the fetal hand (which may include polydactyly [extra fingers], over-riding fingers, or abnormal hand positioning), especially if associated with polyhydramnios, have been reported to be associated with fetal chromosomal abnormalities.
		Mild cerebellar hypoplasia is frequently found in children and adults with trisomy 21.
		Measurement of the fetal cerebellar hemispheres has been reported to be one method of screening for trisomy 21, but many investigators feel that there is too wide a biological range and too low a predictive value from cerebellar measurements to recommend this technique as a screening tool for trisomy 21.
	www.stjohnsmercy.org /services/pnc/chromabnorm.asp (3585 words)

	Indian Pediatrics - Editorial (Site not responding. Last check: )
		On the right side the pelvic bones and femur were hypoplastic, tibia and fibula were absent and foot had only three hypoplastic rays.
		Malformations in addition to ectrodactyly and bilateral aplasia of the tibias (the full-blown syndrome), include distal hypoplasia or bifurcation of the femurs, hypo- or aplasia of the ulnas, aplasia of the patella, hypoplastic big toes and cup-shaped ears.
		Apparent congenital absence of the tibia with lethal congenital cardiac disease.
	www.indianpediatrics.net /feb2005/feb-190-191.htm (447 words)

	Nemours.org - Nemours.org - Skeletal Dysplasia - General Definitions (Site not responding. Last check: )
		Thoracic Spine—relating to the vertebrae found at the level of the ribs and chest.
		Tibia- the inner and wider bone of the two bones connecting the knee and ankle.
		Tracheobronchial tree- The structure within the chest consisting of the trachea and branching bronchi; its shape is likened to an up-side-down tree.
	www.nemours.org /internet?url=no/dysplasia/definitions.html (898 words)

	www.whonamedit.com
		A bone dysplasia, characterized by short stature, hypoplasia of the capitellum, broad shoulders, horizontal alignment of the clavicles, and peculiar ear shape with elongated attached lobules and small posteriorly attached lobules.
		Hereditary skeletal dysplasia of short-limbed dwarfism with mesomelic micromelia, hypoplasia of ulna, fibula and hypoplastic mandibula.
		A rare anomaly characterised by short legs due to absence of the tibia bilaterally, polydactyly of hands and feet, absence of thumbs, reduced knee movements.
	www.whonamedit.com /syndlist.cfm/71 (3400 words)

	[No title]
		Short-Rib Polydactyly Syndrome This is a group of autosomal recessive disorders that are lethal and all consist of short limbs, a constricted thorax, and postaxial polydactyly.
		Type II (Majewski Syndrome) has very short tibias, and may have cleft lip and palate, cardiac anomalies and polycystic kidneys.
		Short-Rib Polydactyly Syndrome Type III displays short limbs, a constricted thorax, postaxial polydactyly, and may have A.
	e-edcredits.com /articles/CME-Towers-fet-skel2.doc (3191 words)

	Orthopaedics Syndromes Second Page
		BURKE (1988) - ADRENAL HYPOPLASIA; ABSENT PITUITARY LUTEINIZING HORMONE
		CHITTY (1993) - BOWED TIBIAE; RADIAL ANOMALIES; OSTEOPENIA; FRACTURES
		HALAL (1986) - UPPER LIMB HYPOPLASIA; MULLERIAN DUCT ANOMALIES
	freeortho.com /syndromes2.html (1167 words)

	ellis-vancreveld.html
		The patients manifests: chondrodysplasia of tubular bones resulting in disproportionate dwarfism, polydactyly and syndactyly of hands and feet, severe dystrophic nails, multiple broad labial frenula with abnormal attachments, congenital missing incisors, anomalous teeth, bilateral partial clefts of the alveolar bone, and malocclusion.
		It is characterized by acromelic and mesomelic shortness of limbs, postaxial polydactyly, small chest, ectodermal dysplasia, and in many cases, congenital heart defects.
		Other findings noted at fetopsy were: polydactyly in all 3 cases, congenital heart defect in 2 and an abnormal frenulum in one case.
	www.indiana.edu /~pietsch/ellis-vancreveld9698.html (3058 words)

	Limb Deficiencies in Newborn Infants -- McGuirk et al. 108 (4): e64 -- Pediatrics
		was defined as the absence or hypoplasia of a phalanx, metacarpal
		To record separately absence or hypoplasia of 1, 2, 3, 4, and 5 digits in the hands or feet and possible combinations, we
		Radiograph of infant with hypoplasia of third finger, showing shortening of metacarpal and proximal phalanx.
	pediatrics.aappublications.org /cgi/content/full/108/4/e64 (3850 words)

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