Alain Barthelmé

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In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDAI. Two of his brothers had a similar phenotype. All three siblings were homozygous(More)
A 58 year old man underwent a facial trauma and developed, after several months, an acute dacryocystitis. A DCR procedure was performed but a pericystitis pursued its course for 6 years though a good patency of the lacrimal flow. The patient was reviewed with deep, large, solid and painless mass. A pathological examination showed a squamous cells carcinoma(More)