Cefadroxil in hyperimmunoglobulin E syndrome.
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to P Garcia-Meric.
Explore the source record for details and available documents.
A cystic pelvic malformation was found in a fetus on antenatal sonography (US) at 26 weeks of gestational age that was no longer present 3 weeks later on control US. The male child presented at birth with a right-sided perineal mass that fistulized with meconial drainage. A radiopaque enema showed a low posterior rectal fistula filling a poorly delineated pouch. Surgery performed through a posterior sagittal approach allowed identification and closure of the fistula and pouch drainage. The diagnosis of a diverticular rectal duplication was considered, although no intestinal lining was observed macroscopically or histologically. The child's anorectal function was normal after a 20-month follow-up. Labeling of the malformation and embryological hypotheses are discussed since the case does not fulfill all the criteria of an intestinal duplication. Surgical techniques are discussed, with an emphasis on the sagittal posterior approach.
A new case of congenital contracture arachnodactyly (CCA) revealed in the neonatal period is reported. CCA is a dominantly inherited syndrome associating arachnodactyly, kyphoscoliosis, multiple congenital joint contractures and crumpled ears. This condition differs from Marfan's syndrome by the usual absence of visceral involvement, although cardiac complications are possible. The neonatal forms result from new mutations are are generally severe.
The authors describe one case of Moebius syndrome in a neonate; the syndrome is uncommon. It includes congenital oculofacial palsy and limb malformations; other cranial nerves are sometimes involved. The etiology is unknown: genetic or embryopathic (infection or toxic). Pathogeny is unclear: nervous or muscular aplasia; neurocristopathy or dysgenesis of the two first branchial arches. The treatment is medical and chirurgical.
Explore the source record for details and available documents.