Biomedical subjects

J P Ladreyt-Ponchon

Publications and source records attributed to J P Ladreyt-Ponchon.

3 recordsLinked to original sources

PubMed1991

[Congenital mega-urethra. A case].

Congenital megalo-urethra is a malformation of the male urethra with a major dilatation of its penile part without obstruction downwards. It is either due to hypoplasia or agenesia of spongy tissue. Two types are described, scaphoid and fusiform types, according to the presence or the absence of erectile tissue. Megalo-urethra is a rare condition, and 56 cases were previously reported until 1987. A new case of this severe anomaly is reported and management discussed.

Humans↗

PubMed1988

[Familial intrauterine nanism with constrictive pericarditis, the MuLiBrEy syndrome].

The authors report the case of two siblings with a MU.LI.BR.EY syndrome. This acronym standing for a singular type of recessive autosomal intra-uterine dwarfism, insufficiently points to the role of pericardial constriction. The main symptoms and the prognosis of the disease are related to pericardial damages. The relevance of the diagnosis lies in the possibilities offered by pericardectomy.

Dwarfism↗

PubMed1986

[Porphyria cutanea tarda in a 4-year-old child with uroporphyrinogen decarboxylase deficiency].

A 4 years old girl presents a typical case of patent form of cutaneous late porphyria with a reduced activity of the erythrocyte, uroporphyrinogen decarboxylase (UROD) genetically transmitted over 3 generations; a multifactor inheritance (HLA A3, a normal phenotype of alpha 1 antitrypsin, exogenous toxins, or viral infections) is discussed.

Carboxy-Lyases↗