Bardet-Biedl syndrome: Delayed diagnosis in a child with Hirschsprung disease

Clinical Dysmorphology

Volumn 5, Issue 3, 1996, Pages 271-273

  Işlek, Ismail ^a   Küçüködük, Sükrü ^a   Erkan, Dilek ^b   Bernay, Ferit ^b   Gazi Kalayci, A ^a   Görk, Semih ^b   Kandemir, Bedri ^b   Cürses, Nuran ^a  

^a ONDOKUZ MAYIS UNIVERSITY   (Turkey)

^b Department of Ophthalmology ^*  (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ANAL CANAL; CASE REPORT; CONGENITAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; HIRSCHSPRUNG DISEASE; HUMAN; HYPOGONADISM; INFANT; LETTER; MALE; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; OBESITY; POLYDACTYLY; RETINITIS PIGMENTOSA;

ABNORMALITIES, MULTIPLE; ANAL CANAL; DIAGNOSIS, DIFFERENTIAL; HIRSCHSPRUNG DISEASE; HUMANS; HYPOGONADISM; INFANT; MALE; MENTAL RETARDATION; OBESITY; POLYDACTYLY; RETINITIS PIGMENTOSA;

EID: 0030185852     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. Anon (1988): Laurence Moon and Bardet Biedl syndromes. Lancet 2: 1178.
2. Biedl A (1922): Ein geschwisterpaar mit adiposo genitales dystrophie. Dtsch Med Wochenschr 48: 1630.
3. Campo RV, Aaberg TM (1982): Ocular and systemic manifestations of the Bardet-Biedl syndrome. Am J Ophthalmol 94: 750-756.
4. Green JS, Parfrey PS, Harnett JD et al. (1989): The cardinal manifestations of Bardet Biedl syndrome, a form of Laurence Moon Biedl syndrome. N Eng J Med 321: 1002-1009.
5. Maeda T, Okanaki K, Tachibana M, et al. (1984): A case of Hirschsprung's disease associated with Laurence Moon Bardet Biedl syndrome. Jpn J Gastroenterol 81: 912-916.
6. Radetti G, Frick R, Pasquino B, et al. (1988): Hypothalamic-pituitary dysfunction and Hirschsprung's disease in the Bardet-Biedl syndrome. Helv Paediatrica Acta 43: 249-252.
7. Runge P, Calver D, Marshall J, Taylor D (1986): Histopathology of mitochondrial cytopathy and the Laurence Moon Biedl syndrome. Br J Ophthalmol 70: 782-96.