Myhre syndrome: New reports, review, and differential diagnosis

Journal of Medical Genetics

Volumn 40, Issue 7, 2003, Pages 546-551

  Burglen, L ^a   Heron D ^b   Moerman, A ^b,c   Dieux Coeslier, A ^c   Bourguignon, J P ^d   Bachy, A ^e   Carel, J C ^f   Cormier Daire, V ^g   Manouvrier, S ^c   Verloes, A ^h  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d UNIVERSITY OF LIÈGE   (Belgium)

^e Clinique Notre Dame   (Belgium)

^f HÔPITAL SAINT VINCENT DE PAUL   (France)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN RECEPTOR;

ADOLESCENT; APLASIA; ARTICLE; ATTENTION DEFICIT DISORDER; BRACHYDACTYLY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; ECHOGRAPHY; ENDOCRINOLOGY; EXTERNAL EAR; FACE DYSMORPHIA; GELEOPHYSIC DYSPLASIA; GENETIC DISORDER; GROWTH CURVE; HEARING IMPAIRMENT; HUMAN; HYPERMETROPIA; HYPERTENSION; HYPOGONADISM; MALE; MUSCLE HYPERTROPHY; MYHRE RUVALCABA SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; PRIORITY JOURNAL; PROGNATHIA; RADIOLOGY; SPERMATOGENESIS;

EID: 0037488176     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.7.546     Document Type: Article

References (20)

1. Myhre SA, Ruvalcaba HA, Graham CB. A new growth deficiency syndrome. Clin Genet 1981;20:1-5.
2. Soljak MA, Aftimos S, Gluckman PD. A new syndrome of short stature, joint limitation and muscle hypertrophy. Clin Genet 1983;23:441-6.
3. Garcia-Cruz D, Figuera LE, Feria-Velasco A, Sanchez-Corona J, Garcia-Cruz MO, Ramirez-Duenas RM, Hernandez-Cordova A, Ruiz MX, Bitar-Alatorre MO, Cantù JM. The Myhre syndrome: report of two cases. Clin Genet 1993;44:203-7.
4. Whiteford ML, Doig WB, Raine PAM, Hollman AS, Tolmie JL. A new case of Myhre syndrome. Clin Dysmorphol 2001;10:135-40.
5. Titomanlio L, Marzano MG, Rossi E, D'Armiento M, De Brasi D, Vega GR, Andreucci MV, Orsini AVM, Santoro L and Sebastio G. 2001. Case of Myhre Syndrome with autism and peculiar skin histological findings. Am J Med Genet 2001;103:163-5.
6. Giedion A, Brandner M, Lecannellier J, Muhar U, Prader A, Sulzer J, Zweymuller E. Oto-spondylo-megaepiphyseal dysplasia (OSMED). Helv Paediatr Acta 1982;37:361-80.
7. Verloes A, Delfortrie J, Lambotte C. GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: a possible "new" recessively inherited MCA/MR syndrome. Am J Med Genet 1989;32:15-18.
8. Bottani A, Verloes A. Myhre-GOMBO syndrome: possible lumping of two "old" new syndromes. Am J Med Genet 1995;59:523-24.
9. Verloes A, Lesenfants S, Jamar M, Dideberg V, Herens C. GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation. Am J Med Genet 2000;95:185-6.
10. Moore WT, Federman DD. Familial dwarfism and "stiff joints": report of a kindred. Arch Intern Med 1965;115:398-404.
11. Maroteaux P, Stanescu R, Stanescu V, Rappaport R. Acromicric dysplasia. Am J Med Genet 1986;24:447-59.
12. Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet 2001;38:745-9.
13. Spranger J, Gilbert EF, Arya S, Hoganson GMI, Opitz JM. Geleophysic dysplasia. Am J Med Genet 1984;19:501-6.
14. Pontz BF, Stoss H, Henschke F, Freisinger P, Karbowski A, Spranger J. Clinical and ultrastructural findings in three patients with geleophysic dysplasia. Am J Med Genet 1996;63:50-4.
15. Hopkin RJ, Cotton R, Langer LO, and Saal HM. Progressive laryngotracheal stenosis with short stature and arthropathy. Am J Med Genet 1998;80:241-6.
16. Lindor NM, Kasperbauer JL, Hoffman AD, Parisi JE, Wang H, Warman M. Confirmation of existence of a new syndrome: LAPS syndrome. Am J Med Genet 2002;109:93-9.
17. Winter RM, Patton MA, Challener J, Mueller RF, Baraitser M. Moore-Federman syndrome and acromicric dysplasia: are they the same entity? J Med Genet 1989;26:320-5.
18. Hennekam RC, van Bever Y, Oorthuys JW. Acromicric dysplasia and geleophysic dysplasia: similarities and differences. Eur J Pediatr 1996;131:311-14.
19. Figuera LE. Geleophysic dysplasia vs Myhre syndrome. Am J Med Genet 1996;65:361.
20. McGaughran JM, Donnai D. Geleophysic dysplasia and Myhre syndrome. Am J Med Genet 1996;65:362.