Keutel syndrome in a patient presenting with hearing loss

B-ENT

Volumn 6, Issue 3, 2010, Pages 201-204

  Acar, Gül Özbilen ^a   Yilmaz, Mehmet ^a,b   Sekercioglu N ^a   Yuksel A ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b Deniz Abdal Mah Necip Asim Sok   (Turkey)

Author keywords

Cartilage calcification; Hearing loss; Keutel syndrome

Indexed keywords

ANTINUCLEAR ANTIBODY; BETA 2 MICROGLOBULIN; IMMUNOGLOBULIN M; OSTEOCALCIN;

ACOUSTIC IMPEDANCE; ACOUSTIC REFLEX; ADULT; ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ENCHONDRAL OSSIFICATION; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEARING AID; HEARING LOSS; HUMAN; IMPEDANCE AUDIOMETRY; KEUTEL SYNDROME; LUNG FUNCTION TEST; OBSTRUCTIVE AIRWAY DISEASE; PERCEPTION DEAFNESS; CHONDROPATHY; MULTIPLE MALFORMATION SYNDROME; PULMONARY VALVE STENOSIS; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; CARTILAGE DISEASES; FEMALE; HEARING LOSS; HUMANS; PULMONARY VALVE STENOSIS; SYNDROME;

EID: 79952276645     PISSN: 1781782X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Teebi AS, Lambert DM, Kaye GM, Al-Fifi S, Tewfik TL, Azouz EM. Keutel syndrome: further characterization and review. Am J Med Genet. 1998;78(2):182-187. (Pubitemid 28298481)
2. Say B, Balci S, Pirnar T, Israel R, Atasu M. Unusual calcium deposition in cartilage associated with short stature and peculiar facial features: a case report. Pediatr Radiol. 1973;1(2):127-129.
3. Keutel J, Jorgensen G, Gabriel P. A new autosomal-recessive hereditary syndrome. Multiple peripheral pulmonary stenosis, brachytelephalangia, inner-ear deafness, ossification or calcification of cartilages [in German]. Dtsch Med Wochenschr. 1971;96(43):1676-1681.
4. Luo G, Ducy P, McKee MD, Pinero GJ, Loyer E, Behringer RR, Karsenty G. Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein. Nature. 1997;386(6620):78-81. (Pubitemid 27130923)
5. Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA. A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. Am J Med Genet A. 2005;135(1):36-40.
6. Munroe PB, Olgunturk RO, Fryns JP, Van Maldergem L, Ziereisen F, Yuksel B, Gardiner RM, Chung E. Mutations in the gene encoding the human matrix G1a protein cause Keutel syndrome. Nat Genet. 1999;21(1):142-144. (Pubitemid 29036302)
7. Meier M, Weng LP, Alexandrakis E, Ruschoff J, Goeckenjan G. Tracheobronchial stenosis in Keutel syndrome. Eur Respir J. 2000;17(3):566-569.
8. Devriendt K, Holvoet M, Fryns JP. Follow-up of an adult with Keutel syndrome. Am J Med Genet. 1999;85(1):82-83.
9. Nanda A, Anim JT, Al-Gareeb M, Alsaleh QA. Keutel syndrome with overlapping features of cutis laxa: a new variant. Am J Med Genet A. 2006;140(13):1487-1489. (Pubitemid 43993145)
10. Parmar H, Blaser S, Unger S, Yoo SJ, Papsin B. Petrified ears in a patient with Keutel syndrome: temporal bone CT findings. Pediatr Radiol. 2006;36(3):241-243.