Publications Nouvelles Sur Syndrome Morgagnimorel

Applegate LJ, Applegate GR, Kemp SS. MR of multiple cranial neuropathies in a patient with Camurati-Engelmann disease: case report. AJNR Am J Neuroradiol 1991; 12:557-9 Bakwin H, Golden A, Fox S. Familial osteoectasia with macro-

cranium. AJR Am J Roentgenol 1964; 91:609-17 Balemans W, van den Ende J, Paes-Alves AF, Dikkers FG, Willems PJ,Vanhoenacker F, de Almeida-Melo N, Alves CF, Stratakis CA, Hill SC, van Hul W. Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.Am J Hum Genet 1999; 64: 1661-9 Baumgartner D, Gassner I, Sperl W, Salzer-Kuntschik M, Jud-maier W, Steinmann B. Calvarial 'doughnut lesions': clinical spectrum of the syndrome, report on a case, and review of the literature. Am J Med Genet 2001; 99:238-43 Behninger C, Rott HD. Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance. Genet Couns 2000; 11: 157-67 Beighton P, Hamersma H, Horan F. Craniometaphyseal dysplasia. Variability of expression within a large family. Clin Genet 1979; 15:252-8 Beighton P. Sclerosteosis. J Med Genet 1988; 25:200-3 Beighton P, Durr L, Hamersma H. The clinical features of sclerosteosis: a review of the manifestations in twenty-five affected individuals. Ann Intern Med 1976; 84: 393-7 Beighton P, Barnard A, Hamersma H, van der Wouden A. The syndromic status of sclerosteosis and van Buchem disease. Clin Genet 1984; 25: 175-81 Bennani-Smires C, el Alamy NR, Bouchareb N. Pyknodysosto-sis. Classical and unusual aspects. Apropos of 7 cases. J Ra-diol 1984; 65: 689-95 Bollerslev J, Mosekilde L. Autosomal dominant osteopetrosis.

Clin Orthop 1993; 294: 45-51 Brunkow ME, Gardner JC, van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y-H, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan JT. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am J Hum Genet 2001; 68: 577-89 Bull MJ, Feingold M. Autosomal dominant inheritance of Caf-

fey disease. Birth Defects Orig Art Ser 1974; 10:139-46 Chitayat D, Silver K, Azouz EM. Skeletal dysplasia, intracere-bral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis. Am J Med Genet 1992; 43: 517-23 Cure JK, Key LL, Goltra DD, VanTassel P. Cranial MR imaging of osteopetrosis. AJNR Am J Neuroradiol 2000; 21:1110-5 Demas PN, Sotereanos GC. Facial-skeletal manifestations of Engelmann's disease. Oral Surg Oral Med Oral Pathol 1989; 68: 686-90

Dort JC, Pollak A, Fisch U. The fallopian canal and facial nerve in sclerosteosis of the temporal bone: a histopathologic study. Am J Otol 1990; 11: 320-5 Dunn V, Condon VR, Rallison ML. Familial hyperphos-phatasemia: diagnosis in early infancy and response to human thyrocalcitonin therapy. AJR Am J Roentgenol 1979; 132:541-5

Dyson DP. Osteomyelitis of the jaws in Albers-Schonberg disease. Br J Oral Surg 1970; 7:178-87 Edelson JG, Obad S, Geiger R, On A,Artul HJ. Pycnodysostosis. Orthopedic aspects with a description of 14 new cases. Clin Orthop 1992;280:263-76

Eggli K, Giudici M, Ramer J, Easterbrook J, Madewell J. Mel-nick-Needles syndrome. Four new cases. Pediatr Radiol 1992; 22:257-61 Elster AD, Theros EG, Key LL, Chen MY. Cranial imaging in autosomal recessive osteopetrosis. II. Skull base and brain. Radiology 1992; 183:137-44 Eyring EJ, Eisenberg E. Congenital hyperphosphatasia.A clinical, pathological, and biochemical study of two cases. J Bone Joint Surg Am 1968; 50: 1099-117 Feldman F. Tuberous sclerosis, neurofibromatosis, and fibrous dysplasia. In: Resnick D (ed.) Diagnosis of joint and bone disorders. W.B. Saunders Company, Philadelphia, 1995 (3rd ed.), pp. 4353-95 Fountain RB. Familial bone abnormalities, deaf mutism, mental retardation and skin granuloma. Proc R Soc Med 1974; 67: 878-9

Fryns J-P. Fountain's syndrome: mental retardation, sen-sorineural deafness, skeletal abnormalities, and coarse face with full lips. J Med Genet 1989; 26: 722-4 Fryns JP, van den Berghe H. Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis). Eur J Pediatr 1988; 147:99-100 Gegick CG, Danowski TS, Khurana RC, Vidalon C, Nolan S, Stephan T, Chae S, Wingard L. Hyperostosis frontalis interna and hyperphosphatasemia. Ann Intern Med 1973; 79: 71-5

Golob DS, McAlister WH, Mills BG, Fedde KN, Reinus WR, Teitelbaum SL, Beeki S, Whyte MP. Juvenile Paget disease: life-long features of a mildly affected young woman. J Bone Miner Res 1996; 11: 132-42 Gorlin RJ. Craniotubular bone disorders. Pediatr Radiol 1994; 24: 392-406

Gorlin RJ, Glass L.Autosomal dominant osteosclerosis. Radiology 1977; 125:547-8 Gorlin RJ, Whitley CB. Lenz-Majewski syndrome. Radiology

1983; 149: 129-31 Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes affecting bone: other skeletal dysplasias. In: Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the head and neck. Oxford University Press, New York, 2001 (4th ed.), pp. 305-65

Guyer PB. Paget's disease of bone: the anatomical distribution.

Metab Bone Dis Relat Res 1981; 3:239-41 Hansman CF. Growth of interorbital distance and skull thickness as observed in roentgenographic measurements. Radiology 1966; 86: 87-96 Holt JF, Thompson GR, Arenberg IK. Frontometaphyseal dysplasia. Radiol Clin North Am 1972; 10: 225-43 Horovitz DD, Barbosa Neto JG, Boy R, Vargas FR, Llerena Junior JC, de Almeida JC.Autosomal dominant osteosclerosis type Stanescu: the third family. Am J Med Genet 1995; 57: 605-9

Huygen PL, Cremers CW, Verhagen WI, Joosten FB. Camurati-Engelmann disease presenting as 'juvenile otosclerosis'. Int J Pediatr Otorhinolaryngol 1996; 37:129-41 Jensen BL. Cleidocranial dysplasia: craniofacial morphology in adult patients. J Craniofac Genet Dev Biol 1994; 14: 163-76

Keats TE, Holt JF. The calvarial "doughnut lesion": a previously undescribed entity. Am J Roentgenol Radium Ther Nucl Med 1969; 105:314-8 Kietzer G, Paparella MM. Otolaryngological disorders in cran-iometaphyseal dysplasia. Laryngoscope 1969; 79:921-41

Knies PT, Le Fever HE. Metabolic craniopathy: hyperostosis frontalis interna.Ann Intern Med 1941; 14:1858-92 Konig R, Dukiet C, Dorries A, Zabel B, Fuchs S. Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree. Am J Med Genet 1996; 63:68-73 Kozlowski K, Beighton P. Gamut index of skeletal dysplasias: an aid to radiodiagnosis. Springer, Berlin Heidelberg New York, 1995 (2nd ed.),pp.31-9 Kula K, Hall K, Hart T, Wright JT. Craniofacial morphology of the tricho-dento-osseous syndrome. Clin Genet 1996; 50: 446-54

Labrune M, Guedj G,Vial M, Bessis R, Roset M, Kerbrat V. Caf-fey's disease with antenatal onset. Arch Fr Pediatr 1983; 40: 39-43

Langer LO Jr, Brill PW, Afshani E, Williams CA, Thomas IT, Frias JL. Radiographic features of craniometadiaphyseal dysplasia, wormian bone type. Skeletal Radiol 1991; 20: 37-41

Lichtenstein JR, Bilbrey GL, McKusick VA. Clinical and probable genetic heterogeneity within mucopolysaccharidosis. II. Report of a family with a mild form. Johns Hopkins Med J 1972; 131:425-35 Lischi G. Torus supraorbitalis (a rare cranial variation). J Radiol Electrol Med Nucl 1967; 48: 463-6 Maclachlan AK, Gerrard JW, Houston CS, Ives EJ. Familial infantile cortical hyperostosis in a large Canadian family. Can Med Assoc J 1984; 130: 1172-4 Marden FA, Wippold FJ 2nd. MR imaging features of craniodi-

aphyseal dysplasia. Pediatr Radiol 2004; 34:167-70 McHugh DA, Rose GE, Garner A. Nasolacrimal obstruction and facial bone histopathology in craniodiaphyseal dysplasia. Br J Ophthalmol 1994; 78: 501-3 Meseguer P, Castro-Gago M, Suarez-Camino J, Alvarez-Moreno A, Alonso-Martin A, Eiris-Punal J. Striated osteopathy with cranial sclerosis and macrocephaly in childhood. Report of 2 cases. Rev Neurol 1997; 25: 1579-82 Mitsudo SM. Chronic idiopathic hyperphosphatasia associated with pseudoxanthoma elasticum. J Bone Joint Surg Am 1971;53:303-14 Nager GT, Stein SA, Dorst JP, Holliday MJ, Kennedy DW, Diehn KW, Jabs EW. Sclerosteosis involving the temporal bone: clinical and radiologic aspects. Am J Otolaryngol 1983; 4: 1-17

Pagon RA, Beckwith JB,Ward BH. Calvarial hyperostosis: a benign X-linked recessive disorder. Clin Genet 1986; 29:73-8 Pawlikowski M, Komorowski J. Hyperostosis frontalis, galact-orrhoea/hyperprolactinaemia, and Morgagni-Stewart-Morel syndrome. Lancet 1983; I: 474 Reeder MM. Reeder and Felson's gamut in radiology. Comprehensive lists of roentgen differential diagnosis. Springer, Berlin Heidelberg New York, 1993 (3rd ed.),p. 14 Richardson A, Deussen FF. Facial and dental anomalies in cleidocranial dysplasia: a study of 17 cases. Int J Paediatr Dent 1994; 4: 225-31

Rosatti P. Une famille atteinte d'hyperostose frontale interne (syndrome de Morgagni-Morel) a travers quatre generations successives. J Genet Hum 1972; 20:207-52 Saul RA, Lee WH, Stevenson RE. Caffe/s disease revisited. Further evidence for autosomal dominant inheritance with incomplete penetrance.Am J Dis Child 1982; 136: 55-60 Sharma RR, Mahapatra AK, Pawar SJ, Lad SD, Athale SD, Musa MM. Symptomatic cranial fibrous dysplasias: clinico-radio-logical analysis in a series of eight operative cases with follow-up results. J Clin Neurosci 2002; 9:381-90

Staehling-Hampton K, Proll S, Paeper BW, Zhao L, Charmley P, Brown A, Gardner JC, Galas D, Schatzman RC, Beighton P, Papapoulos S, Hamersma H, Brunkow ME. A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. Am J Med Genet 2002; 110: 144-52 Stanescu V, Maximilian C, Poenaru S, Florea I, Stanescu R, Ionesco V, Ioanitiu D. Syndrome héréditaire dominant, réunissant une dysostose cranio-faciale de type particulier, une insuffisance de croissance d'aspect chondrodystrophi-que et un épaississement massif de la corticale des os longs. Rev Fr Endocrinol Clin 1963; 4: 219-31 Van Buchem FSP, Hadders HN, Hansen JF, Woldring MG. Hyperostosis corticalis generalisata: report of seven cases. Am J Med 1962;33:387-97 Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, Mumm S. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J Med 2002; 347: 175-84

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