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Chondrodystrophia calcificans congenital hypothyroidism – Conradi's disease (chondrodystrophia calcificans congenita)

The delay in dental development in this condition is readily observed on roentgenograms of the teeth. Harefuah , In Hebrew 33 M Grunebaum The radiological investigation of congenital subglottic stenosis.

David Stewart
Friday, October 6, 2017
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  • Am J Clin Pathol This is manifested by short, underdeveloped roots.

  • S myth : Stippled epiphyses with congenital hypothyroidism Cretinoid epiphyseal dysgenesis.

  • Patients with the milder forms of chondrodysplasia punctata usually have minimal complications aside from short stature.

ⓘ Chondrodysplasia punctata

T hamdrupE. C affeyJ. Z ennaro : Chondroangiopathia calcarea seu punctata. C ameron : Dysplasia epiphysialis punctata. L arbreR.

Thiel, H. Blatt, M. The book is separated into chapters according to the body organs. There are metallic restorations fillings in the molar teeth and also in the second bicuspid on the far left. Fritsch, H. Klippel-Feil anomaly with sacral agenesis : an additional subtype, type IV.

Disorders of skin appendages. Fractures in children who have Gaucher disease. Google Scholar Bodian, E. The aim of treatment is to reduce the amount of toxic free copper.

Publications

G oodfriend : Epiphysial dysgenesis associated with cretinism in a premature infant. F orniS. C row : Chondrodystrophia calcificans congenita. D e L orimierA. R esnickE.

  • B urckhardtE.

  • The mental foramen, which transmits distal branches of the third division of the trigeminal nerve V 3 appears as a radiolucency below and between the lower bicuspids.

  • A llansmithM.

  • M aitlandD. W iedemannH.

  • There are no reports of any person surviving more than 20 years, usually from overwhelming infection or hemorrhage. Clinical: It affects the skeleton, ligaments, skin, sclera, and teeth.

  • E rb : Report of two cases with unusual calcareous deposits.

Uppsala 51— N abarroS. G oodfriend : Epiphysial dysgenesis associated with cretinism in a premature infant. L angeC. Ein abortiver Fall dieser Erkrankung. C orominas y A. N icole : Kongenitale Infektion mit Coxsackie-Virus.

ALSO READ: Nhs Guidelines Hypothyroidism Natural Treatment

S challock : Chondrodystrophia calcificans. B lattM. Acta radiol. K euth : Extreme Mikromelie bei Chondrodysplasia calcificans congenita. London: E.

P aufiqueL. The disease belongs in the group of multiple epiphyseal dysplasias. L eratF. Create a personal account to register for email alerts with links to free full-text articles. B irsnerJ. F orniS. Report of a case not associated with hypothyroidism.

Most are differentiated by clinical exam, x-ray, and qualification and quantification of the various MPS in the urine. Note loss of bone extending between the roots of the lateral incisor and cuspid in the lower jaw arrow. This arylsulfatase is also inhibited by warfarin, perhaps explaining the phenocopy observed in warfarin embryopathy. Spranger and associates published a landmark article that documented extreme phenotypic and genetic heterogeneity of chondrodysplasia punctata

MeSH terms

S avignacE. B loxsomA. Basel— U glandO.

Scott, L. M GrunebaumP Merlob Incomplete prepyloric antral membrane in the newborn. Google Scholar Mosekilde, E. Google Scholar Lang, F.

Cause: osteoporosis, osteomalacia, Paget disease, osteogenesis imperfecta, multiple myeloma, hyperparathyroidism, Gaucher disease. Most mutations chondrodystrophia calcificans congenital hypothyroidism between exons 12 and 24 of the COL2A1 gene. We'll do our best to fix them. Childhood paraplegics may end up with extremely gracile long and thin bones, with coxa valga, a small and funny looking pelvis, and very little muscle mass.

  • Dermatologica Basel 8938—40 T hamdrupE.

  • Malignancy metastasis, lymphoma, plasma cell dyscrasia, solitary plasmacytoma, multiple myeloma. The deciduous and permanent teeth are brown and wear away rapidly.

  • V inkeT.

  • There are a lot of physicians out there in deep denial about dysplasias. See also: Category:Melanocytic nevi and neoplasms.

  • Pediatrics 8— L angeC.

Purchase access Subscribe to the journal. W iedemannH. K ucskoL. Privacy Policy Terms of Use. C row : Chondrodystrophia calcificans congenita.

Congenital hypothyroidism radiation-induced cutaneous conditions result from exposure to ionizing radiation. Calcififans development of pain or growth after the plates have closed in an osteochondroma should be looked upon with suspicion for malignant degeneration. Prognosis and complications Patients with the most severe forms of chondrodysplasia punctata have a significantly shortened life expectancy, with many dying by 2 years of age. Defect for NF1 found on chromosome 17, gene coding for neurofibrillin which acts as tumor suppressor. Cause is a deficiency of the enzyme beta-glucocerebrosidase. Trends Genet.

Zusammenfassung

Treatment: Because hypoghyroidism chondrodystrophia calcificans congenital hypothyroidism risk of cervical instability, each patient should have a lateral cervical radiograph and, if instability appears possible, a flexion-extension view. Google Scholar Dietrich, A. The patient tends to be short in stature. Periapical Abscess This is the stage of the disease in which there is actual suppuration. Treatment: Early therapy for joint contractures is required.

  • H ervouet et L. D uffy : Chondrodystrophia calcificans congenita.

  • Radiological findings in Polymyositis - Dermatomyositis involving the pharynx and upper esophagus. Philadelphia, PA: W.

  • D uffy : Chondrodystrophia calcificans congenita.

  • This disorder is characterized by dysplasia of the fingernails, short stature caused by shortening of the tubular bones, polydactyly, carpal fusion, and dental abnormalities. The premolars bicuspids are most commonly affected, followed by the first and second molars.

  • B erreyB. S tickler : Punctate epiphyseal dysplasia, another cause of leg length inequality.

S challock : Zur Kenntnis der Chondrodysplasia calcificans congenita und ihrer Beziehungen zur Chondrodysplasia foetalis. S toppH. I, Teil I. Paris 6742—44 By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy Continue.

C onradiE. H ervouet et L. S heachJ. Ophthalmologica Basel— R angel : Un caso de condrodistrofia calcificante congenita.

P apio : La condrodistrofia congenita calcificante: primo contributo casistico italiano. Paris 6742—44 R ampoldi : La condrodistrofia calcificante congenita. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy Continue. H ervouet et L.

  • Thomas

  • Dermatological Discoveries of the 20th Century.

  • V inkeT.

  • M GrunebaumH Salingger. Valdmanis, A.

Create a free personal account to download free article PDFs, sign up for alerts, customize your interests, and more. K ucskoL. P hillipsL. B erreyB.

  • S utherland : Epiphyseal dysplasia puncticularis stippled epiphyses.

  • Therefore, if your patient has bones that are funny-shaped in some way, they are probably dysplastic. Year-Book of Endorinol44 A PerzelanI Blum, M GrunebaumZ Laron The combined effect of growth and methandrostenolone of the linear growth of patients with multiple pituitary hormone deficiencies.

  • K euth : Extreme Mikromelie bei Chondrodysplasia calcificans congenita.

  • Chronic blistering cutaneous conditions have a prolonged course and present with vesicles and bullae.

  • The above image is a autopsy radiograph and illustrates the lethal autosomal recessive form of the disease. Position of the splenic flexure in congenital absence or displacement of the left kidney.

  • Prognosis: Homozygous achondroplasia is generally lethal, life expectancy is not significantly diminished in heterozygotes.

APA Haynes, E. The ribs, clavicle and skull are not involved. Zellweger cerebrohepatorenal syndrome, gangliosidosis, rubella, trisomy hypotuyroidism and 21, vitamin K deficiency, hypothyroidism, and fetal alcohol syndrome all may have the same phenomenon. Osteogenesis Imperfecta The characteristic dental alteration associated with this condition dentinogenesis imperfecta type I is replacement of the pulp canals by dentine, resulting in teeth that are uniformly dense.

S alisachsL. Get free access to newly published articles. JOHN C. P utscharW.

Cutaneous focal mucinosis Cutaneous lupus mucinosis Eccrine mucinosis Alopecia mucinosa Perifollicular mucinosis Stiff skin syndrome Generalized lichen myxedematosus. Please try again! Ann Agric Environ Med. A newborn infant with craniofacial dysmorphism and polysyndactyly. Most types of amelogenesis imperfecta are autosomal dominant or recessive, but some may be X-linked.

Mucopolysaccharidosis The group of clinical conditions produced by a common inability to hypothhyroidism one chondrodystrophia calcificans congenital hypothyroidism several proteoglycans mucopolysaccharides is called mucopolysaccharidosis. M GrunebaumNT Griscom. Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration. Rent this article via DeepDyve. Inflammatory process mimicking bladder tumors in children. Google Scholar Azemar, J.

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S cottL. B urtonS. A rendt : Chondrodystrophia calcificans congenita. H arrisH. M aitlandD.

Most commonly encountered form of rickets. Dentinogenesis Imperfecta Type II This is an autosomal dominant trait that is unrelated to osteogenesis imperfecta. Frequency: ApproximatelyThe above image is a autopsy radiograph and illustrates the lethal autosomal recessive form of the disease. Google Scholar Curth, H.

This is a preview of subscription content, log in to check access. K arlenK. T esarzZ. S cottL. Twitter Facebook Email. Y akovacW. B lattM.

G uare and A. Sign in to customize your interests Sign in to your personal account. N icole : Kongenitale Infektion mit Coxsackie-Virus. Minerva pediat. L arbreR.

S orinJ. Z achau -C hristiansen : Dysplasia Epiphysialis Punctata. I llingworth : Congenital stippled epiphyses. B erreyB. B loxsomA. V ychytilO. C urthH.

  • P aufiqueL. Acta radiol.

  • The various manifestations of periapical infection may be difficult to classify into one of the groups described, but they should be recognized as lesions caused by infection; that is, they represent a focus of infection that must be managed by dental surgery.

  • S cheider and J. S toppH.

  • Pathology: The physis proliferative and hypertrophic zones histologically appears to be more affected than the metaphysis; therefore, the term metaphyseal dysostosis has fallen out of favor.

I, Teil I. J ollyH. Z achau -C hristiansen : Dysplasia Epiphysialis Punctata. Advertisement Hide. C ohen : Chondrodystrophia calcificans congenita Dysplasia epiphysialis punctata. Create a free personal account to download free article PDFs, sign up for alerts, and more. B orovskyM.

J ohnston : Calcinosis universalis with unusual features. G eymanM. B uxtonS. Institutional sign in: OpenAthens Shibboleth. C oin : Calcification of the hyoid, thyroid and tracheal cartilages in infancy. M iddlemiss : Dysplasia epiphysialis punctata. R ampoldi : La condrodistrofia calcificante congenita.

Zusammenfassung

U glandO. C urthH. K arlenA. Radiology 58— W hite : Chondrodystrophia calcificans congenita.

  • S wobodaW. V ychytilO.

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  • Einstein Med.

  • Report of a case not associated with hypothyroidism.

  • A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability.

Characteristically, it produces a sharply marginated, expansile, rarefied area with a formed chondrodystrophia calcificans congenital hypothyroidism incompletely formed tooth projecting into the cavity along one chonxrodystrophia. The prevalence is approximately 3. The roots, which are covered with cementum, lie in sockets in the alveolar process of the jaw and are attached by the periodontal ligament to the alveolar bone. Wilson disease Wilson disease is caused by mutations in ATP7B that result in abnormal copper metabolism, and subsequent excess free copper is toxic. In pseudohypoparathyroidism, dental changes are similar to those in hypoparathyroidism: hypoplasia of the enamel; short, underdeveloped roots; and delayed eruption or noneruption of affected teeth. Google Scholar Kremens, V. Ann Rheum Dis.

Neurofibromatosis Neurofibromatosis is the most common single-gene disorder in humans. Vascular-related cutaneous conditions result from dysfunction of the blood or blood vessels in the dermis, or lymphatics in the subcutaneous tissues. Chondrodystrophia calcificans congenital hypothyroidism deciduous and permanent teeth are brown and wear away rapidly. Three forms may occur, depending on the cyst content: dentigerous cyst, simple follicular primordial cyst, and cystic odontoma. Parasitic infestations, stings, and bites in humans are caused by several groups of organisms belonging to the following phyla : AnnelidaArthropodaBryozoaChordataCnidariaCyanobacteriaEchinodermataNemathelminthesPlatyhelminthesand Protozoa. International J of NephrologySee also: Category:Genodermatoses.

M GrunebaumR Lebowitz Hypotyroidism in cystinosis. J Clin Invest ; 6 Disturbances of human pigmentation, either loss or reduction, may be related to loss of melanocytes or the inability of melanocytes to produce melanin or transport melanosomes correctly. J Inherit Metab Dis ;

Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. Am J Dis of ChildHypotyroidism in cystinosis.

  • L arbreR.

  • Helv Paediatr Acta ,

  • O rloffand E. O ehleckerG.

  • S avignacE. F anconiG.

Syndrome of osteoporosis and muscular degeneration associated with cerebro - oculo - fascio -skeletal changes. Primer on the rheumatic diseases. In infancy, calcification develops in the pinna of the ear, and later in the cranium and costal cartilages. Only gold members can continue reading.

M oskovitz : Chondrodystrophia calcificans congenita. B erreyB. B urtonS. F raserF. I llingworth : Congenital stippled epiphyses. M enichiniG.

Personalised recommendations. Twitter Facebook Email. J esiotr : Chondroangiopathia calcarea seu punctata Chondrodystrophia calcificans congenita : An atypical stationary form of the disease.

L ichtJ. N icole : Kongenitale Infektion mit Coxsackie-Virus. A rendt : Chondrodystrophia calcificans congenita. Our website uses cookies to enhance your experience. Skip to main content. A rmalyM.

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The radiographic appearance chondrodystrophia calcificans congenital hypothyroidism the ventricular laryngocele. Renal anomalies in neonates with spontaneous pneumothorax — incidence and evaluation. The bony lesions may be chondrorystrophia or multiple within the mandible and may involve other bones. Whether the primary anomaly is within the blood vessels or the vessels are merely parallel to the abnormally coursing cartilage columns is not known. Virus-related cutaneous conditions are caused by two main groups of viruses — DNA and RNA types—both of which are obligatory intracellular parasites.

Polydactyly: May chondrodjstrophia soft tissue or more complex bony reconstruction. Bateman, D. The cartilaginous columns show degrees of divergence from their usual parallel arrangement. J of Urol42 I GlanzM Grunebaum The radiological approach of leiomyoma in the esophagus with a longterm follow up. The first are termed deciduous or temporary teeth.

Cricopharyngeal achalasia associated with congenital suprabulabr paresis. Pediatr Surgb. Google Scholar Calcifican, E. Azemar, J. Twenty-one months later a second pregnancy was investigated by means of roentgenograms and a similar skeletal malformation with an interesting variant was noted. Each tooth consists of a crown, which is covered by enamel, and a root.

SPINAL DYSRAPHISM

M GrunebaumP Merlob. Dermatol Clin. Please enable Javascript on your browser to continue. M GrunebaumM Neumann. Hyperparathyroidism Thinning or loss of the lamina dura is noted on dental roentgenograms, along with marked decalcification of the alveolus.

I vinsand G. W angner : Chondroangiopathia calcarea seu punctata. P aufiqueL. Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy Continue.

Epidermal nevineoplasmsand chondrodysrtophia are skin lesions that develop from the epidermal layer of the skin. Complete absence of external genitalia and limb-body-wall complex. Treatment: Hypothyroidism above, treatment depends on level of involvement. The game develops imagination, concentration, teaches how to solve tasks, plan their own actions and of course to think logically. New York: McGraw-Hill, There is evidence that osteopoikilosis can an be caused by heterozygosity for loss-of-function mutations in LEMD3, also called MAN1, which encodes an inner nuclear membrane protein. Manson Publishing Ltd.

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V ychytilO. Basel— S challock. F reudenbergE. Get free access to newly published cognenital Create a personal account or sign in to: Register for email alerts with links to free full-text articles Access PDFs of free articles Manage your interests Save searches and receive search alerts. Create a free personal account to download free article PDFs, sign up for alerts, and more. B uxtonS.

S myth : Stippled epiphyses with congenital hypothyroidism Cretinoid epiphyseal dysgenesis. Minerva ortop. Sign in to access your subscriptions Sign in to your personal account. Create a free personal account to access your subscriptions, sign up for alerts, and more.

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Berlin: Springer V inkeT. Radiology 57— U glandO. C ohenJ.

  • T esarzZ.

  • The face is generally taut, with a small mouth frequently with a cleft palate.

  • T isdallF. Z ennaro : Chondroangiopathia calcarea seu punctata.

M Grunebaum Hypothyroidism manifestations of lung echinococcosis in children. Chondrodystrophiw findings in a fetus with X-linked recessive type of chondrodysplasia punctata CDPX1 : a case report with novel mutation. In a tooth so affected, the neurovascular supply to the pulp is necrotic, and the dentist refers to the tooth as being nonvital. See also: Category:Melanocytic nevi and neoplasms.

Acta 21—32 J esiotr : Chondroangiopathia calcarea seu punctata Chondrodystrophia calcificans congenita : An atypical stationary form of the disease. M c C ulloughJ. K werchH.

Authors Authors and affiliations E. J orupS. S challock : Zur Kenntnis der Chondrodysplasia calcificans congenita und ihrer Beziehungen zur Chondrodysplasia foetalis.

K remensS. Privacy Policy Terms of Use. S challock : Zur Kenntnis der Chondrodysplasia calcificans congenita und ihrer Beziehungen zur Chondrodysplasia foetalis. L angeC. C affeyJ. R angel : Un caso de condrodistrofia calcificante congenita. Minerva pediat.

The radiological approach of leiomyoma in the esophagus with hypogonadism amenorrhea longterm follow up. Striking bulbous metaphyseal expansion of long bones is a distinctive radiographic finding. The palate is high and narrow, and there is hypoplasia of the mandible. A SavirM Grunebaum Inflammatory process mimicking bladder tumors in children.

MeSH terms

Ionizing radiation-induced cutaneous conditions result from exposure to ionizing radiation. Erythema annulare centrifugum Erythema marginatum Erythema migrans Erythema gyratum repens. The lesions may occur in the absence of clinical signs, which makes radiographic examination doubly important.

C ohenJ. S criver : A hereditary factor in chondrodystrophia calcificans congenita. This service is more advanced with JavaScript available. Livingstone Ltd.

In the calvificans type, the radiolucency around a single tooth increases. Benign cysts and tumors are so similar to low-grade malignancies in the jaw that roentgen findings often are equivocal. Paper No. Mosekilde, E. Cutaneous congenital anomalies are a diverse group of disorders that result from faulty morphogenesisthe biological process that forms the shape of a human body. Radiographic: Most changes in MED involve the epiphyses; almost all of the ossification centers are delayed in appearance.

B rogdonB. F igueroaJ. Uppsala 44 S earsW. A total of approximately cases have been reported over a period of 50 years by nearly as many authors thus indicating its rare occurrence.

Mol Ther ;27 3 M Grunebaum Radiological manifestations in familial dysautonomia. Briggs, J. Coxa vara and long-bone deformity can result during the course of treatment of multiple fractures, both of which are amenable to corrective osteotomy.

G oodfriend : Epiphysial dysgenesis associated with cretinism in a premature infant. S chneidmanH. M enichiniG. W iskottA.

M Werner. SED is a generalized dysplasia with primary involvement of the vertebrae and proximal epiphyseal centers. Brogdon, B. Pediat J Gastroenterol and Nutrition ,

Lymphoid-related cutaneous conditions are a group of disorders characterized by collections of lymphocyte cells within the skin. Erythemas are reactive skin conditions in which there is blanchable redness. Some patients without this syndrome will occasionally develop one or more osteochondromas. Prognosis: There is increased mortality in infancy due to respiratory complications but thereafter, people with diastrophic dysplasia have a normal life span. Panoramic devices save time and radiation exposure. M Grunebaum Foreign-body aspiration in the pediatric age group. McCullough, J.

Philadelphia, Saunders, However, some unfortunate patients may have a syndrome of multiple enchondromas, a. Lymphoid-related cutaneous conditions are a group of disorders characterized by collections of lymphocyte cells within the skin.

Characteristically, it produces a sharply marginated, expansile, rarefied area with a formed or incompletely formed tooth projecting into the cavity along one side. Clinical picture of chondrodystrophia calcificans congenital hypothyroidism child with spondyloepiphyseal dysplasia. Physiology, biochemistry, and molecular biology of the skin 2nd ed. Radiographic: Along with the classic central expansile pattern seen with classic solitary enchondromas, one may also see linear or columnar lucencies in the metaphyses, representing columns of growing cartilage. This is another very logical disorder. Google Scholar Jerre, T.

C row : Chondrodystrophia calcificans congenita. H arrisH. Uppsala 42 Stuttgart: Georg Thieme

  • Sign in to download free article PDFs Sign in to access your subscriptions Sign in to your personal account. I llingworth : Congenital stippled epiphyses.

  • Folliculitis Folliculitis nares perforans Tufted folliculitis Pseudofolliculitis barbae Hidradenitis Hidradenitis suppurativa Recurrent palmoplantar hidradenitis Neutrophilic eccrine hidradenitis. The differential diagnosis of the radiographic changes in copper deficiency.

  • Z eldes and J.

Schweiz, med. Mosekilde There are no affiliations available. B ergstedtJ. S myth : Stippled epiphyses with congenital hypothyroidism Cretinoid epiphyseal dysgenesis. Acta Chir.

Prognosis: Chondrorystrophia congenital hypothyroidism near normal. However, heterogeneity is present, and these findings are not consistent. View author publications. Pathology: There is a failure of formation of the secondary centers of ossification causing a loss of articular cartilage support with resulting joint deformity and early arthritis. Acquired disorders are much more common than congenital dysplasia in the patient population I usually see, even in the big tertiary medical center in which I practice.

Introduction

In juvenile rheumatoid arthritis, the mandible is often underdeveloped and a rather deep local notch may be observed on the undersurface of the mandibular body, just anterior to the angle gonion. The cystic cavity is clearly defined and usually is unilocular. This is another very logical disorder.

Create a free personal account to download free article PDFs, sign up for alerts, customize your interests, and more. Ophthalmologica Basel— H aynesE. Bone Jt Surg. R angel : Un caso de condrodistrofia calcificante congenita. Ann, paediat. K erneisM.

J Pediatr Chondrodystrophiaa 8: Google Hypothyroidism Tisdall, F. References Armaly, M. There is frequently a pectus carinatum because the rib growth outpaces the trunk height. The vast majority of deaths are secondary to respiratory problems. M Grunebaum Evaluation of the retropharyngeal soft-tissue in young infants with hypothyroidism. Chirurgia Bucur.

Ann, paediat. B atemanD. H ervouet et L. Radiology 58— B ossiR.

After a lapse of 20 years the second case was reported in a male infant. T hursfield : Congenital deformities with stippled epiphyses and congenital cataract. Minerva pediat. Sign in to make a comment Sign in to your personal account. Privacy Policy.

J anssen : Chondrodystrophia calcificans congenita als onderdeel van een reeks aangeboren afwijkingen. B erreyB. W ilkinsL. F anconiG.

C affeyJ. N euhauser : A significant variant in the ossification centers of the vertebral bodies. T esarzZ. G oodfriend : Epiphysial dysgenesis associated with cretinism in a premature infant.

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  • Mycobacterium -related cutaneous conditions are caused by Mycobacterium infections.

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Einstein Med. F reudenbergE. London H ervouet et L.

H arrisH. Thomas B urckhardtE. S myth : Stippled epiphyses with congenital hypothyroidism Cretinoid epiphyseal dysgenesis. J euneM.

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