Jeune syndrome

Postgraduate Medical Journal

Volumn 84, Issue 996, 2008, Pages 559-

  O'Connor, M B ^a   Gallagher, D P ^a   Mulloy, E ^b  

^a UNIVERSITY HOSPITAL LIMERICK   (Ireland)

^b ST JOHN'S HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

PHENOBARBITAL; URSODEOXYCHOLIC ACID;

ASPHYXIA; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 15Q; CLINICAL FEATURE; HUMAN; HYDROCEPHALUS; JEUNE SYNDROME; KIDNEY DISEASE; LETTER; LIVER DISEASE; MENTAL DEFICIENCY; RESPIRATORY FAILURE; RETINA DEGENERATION; SKELETON MALFORMATION; SURVIVAL RATE;

ASPHYXIA; CHROMOSOMES, HUMAN, PAIR 15; HUMANS; HYPOVENTILATION; MUSCULOSKELETAL ABNORMALITIES; SYNDROME; THORAX;

EID: 56749156827     PISSN: 00325473     EISSN: 14690756     Source Type: Journal    
DOI: 10.1136/pgmj.2007.066159     Document Type: Letter

References (4)

1. Jeune M, Beraud C, Carron R. Asphyxiating thoracic dystrophy with familial characteristics. Arch Fr Pediatr 1955;12:886-91.
2. Sankar VH, Phadke SR. Asphyxiating thoracic dystrophy with facial dysmorphism. Indian J Pediatr 2006;73:1115-18.
3. Freidman JM, Kaplan HG, Hall JR. The Jeune syndrome in an adult. Am J Med 1975;59:857.
4. Morgan NV, Bachelli C, Gissen P, et al. A locus for asphyxiating thoracic dystrophy (ATD) maps to ch.15q 13. J Med Genet 2003;40:431-5.