Tracheobronchial calcification associated with Keutel syndrome

Turkish Journal of Pediatrics

Volumn 48, Issue 4, 2006, Pages 357-361

  Özdemir, Nihal ^a   Ersu, Refika ^a   Akalin, Figen ^a   Karadaǧ, Bülent ^a   Kut, Arif ^b   Karakoç, Fazilet ^a   Elçioǧlu, Nursel ^a   Daǧli, Elif ^a  

^a MARMARA UNIVERSITY   (Turkey)

^b Goztepe Social Secty Hospital   (Turkey)

Author keywords

Brachytelephalangia; Keutel syndrome; Tracheobronchial calcification

Indexed keywords

BRONCHODILATING AGENT;

ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRONCHOSCOPY; CARTILAGE; CASE REPORT; CHILD; CHILD DEVELOPMENT; CHILDHOOD DISEASE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; COUGHING; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; FAMILY HISTORY; FEMALE; HAND RADIOGRAPHY; HUMAN; HYPOPLASIA; KEUTEL SYNDROME; LUNG CALCIFICATION; PATIENT REFERRAL; PHYSICAL EXAMINATION; PHYSIOTHERAPY; PULMONARY VALVE STENOSIS; RARE DISEASE; THORAX RADIOGRAPHY; TRACHEOBRONCHIAL TREE; TREATMENT OUTCOME; WHEEZING;

ABNORMALITIES, MULTIPLE; BRONCHIAL DISEASES; CALCINOSIS; CARTILAGE DISEASES; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; PULMONARY VALVE STENOSIS; RADIOGRAPHY, THORACIC; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED; TRACHEAL DISEASES;

EID: 33846117484     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Rifkin MD, Pritzker HA. Tracheobronchial cartilage calcification in children. Case reports and review of the literature. Br J Radiol 1984; 57: 293-296.
2. Santos JM. Laryngotracheobronchial cartilage calcification in children. A case report and review of the literature. Pediatr Radiol 1991; 21: 377-378.
3. 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: 182-187.
4. Miller SF. Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome. Pediatr Radiol 2003; 33: 186-189.
5. Haddad MC, Sharif HS, Jared MS, Sammak BM, Al Shahed MS. Premature tracheobronchial, laryngeal and costochondral cartilage calcification in children. Clin Radiol 1993; 47: 52-55.
6. Nienhuis DM, Prakash UB, Edell ES. Tracheobronchopathia osteochondroplastica. Ann Otol Rhinol Laryngol 1990; 99: 689-694.
7. Van Driel D, Wesseling J, Sauer PJ, Touwen BJ, Van Der Veer E, Heymans HA. Teratogen update: fetal effects after in utero exposure to coumarins: overview of cases, follow-up findings, and pathogenesis. Teratology 2002; 66: 127-140.
8. Elçioǧlu N, Hall CM. Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence. Am J Med Genet 1998; 35: 690-694.
9. International working group on constitutional diseases of bone. 1998. International nomenclature and classification of the osteochondrodysplasias. Am J Med Genet 1997; 79: 376-382.
10. Keutel J, Jorgensen G, Gabriel P. Ein neues autosomal-rezessiv vererbbares syndrom. Dtsch Med Wochenschr 1972; 149: 188-191.
11. Meier M, Weng LP, Alexandrakis E, Rüschoff J, Goeckenjan G. Tracheobronchial stenosis in Keutel syndrome. Eur Respir J 2001; 17: 566-569.
12. Say B, Balci S, Pinar T, et al. Unusual calcium deposition in cartilage associated with short stature and peculiar facial features: a case report. Pediatr Radiol 1973; 1: 127-129.
13. Kinik E, Balci S, Bilgiç A. Multipl periferal stenoz, kartilajlarda noktavi kalsifikasyon, işitme kaybi, yünümsü saç (woolyhair) ile birlikte ailevi akdeniz ateşi (FMF): muhtemelen yeni bir antite. Çocuk Saǧliǧi ve Hastaliklari Dergisi 1977; 20: 74-82.
14. Khosrashahi HE, Uluoǧlu Ö, Olguntürk R, et al. Keutel syndrome: a report of four cases. Eur J Pediatr 1989; 149: 188-191.
15. Tüysüz B, Üngür S, Akalin F, Cenani A, Tunnessen WW. Picture of the month. Keutel syndrome. Arch Pediatr Adolesc Med 1999; 153: 765-766.
16. Gilbert B, Lacombe D. Keutel syndrome and miscarriages. Am J Med Genet 1999; 83: 209-211.
17. Munroe PB, Olgunturk RO, Fryns JP, et al. Mutations in the gene encoding the human matrix G1a protein cause Keutel syndrome. Nat Genet 1999; 21: 142-144.