1.
J Ayub Med Coll Abbottabad
; 26(4): 625-7, 2014.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25672202
RESUMO
Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in our hospital. We here report an infrequent case of autosomal recessive disorder with Anaemia.