Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

The congenital disorders of glycosylation (CDG) constitute a new group of recessively inherited metabolic disorders that are characterized biochemically by defective glycosylation of proteins. Several types have been identified. CDG-Ia, the most frequent type, is a multisystemic disorder affecting the nervous system and numerous organs including liver, kidney, heart, adipose tissue, bone, and genitalia.

[Microdeletion of 22q11 and conotruncal cardiopathies: contribution of prenatal diagnosis].

Objective: We report our experience on prenatal diagnosis of 22q11 deletion by fluorescent in situ hybridation (FISH).

Patients And Methods: From February 1997 to April 1998, prenatal diagnosis of 22q11 deletion was performed in 13 cases of congenital conotruncal heart defects. FISH was carried out using D22S75 DiGeorge's chromosome region probe.

[Hip dislocation. Organization of screening and follow-up].

Early detection and low-risk treatment are the two main objectives of the management of developmental dislocation of the hip. The best way to evaluate neonatal hips is to perform clinical and ultrasound examinations at the same time, and to confront their results. Early diagnosis allows to restrict treatment to infants with neonatal dislocation who do not improve by 4 weeks of age.

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

The L1CAM gene, which is located in Xq28 and codes for a neuronal cell adhesion molecule, is involved in three distinct conditions: HSAS (hydrocephalus-stenosis of the aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, adductus thumbs), and SPG1 (spastic paraplegia). Molecular analysis of the L1CAM gene is labor-intensive because of the size of the coding region, which is fragmented in numerous exons, and because of the great allelic heterogeneity and distribution of the mutations. The FAMA (fluorescent assisted mismatch analysis) method combines the excellent sensitivity of the chemical cleavage method for scanning PCR fragments larger than 1 kb and the power of automated DNA sequencers.

Long-term prevention of allergic diseases by using protein hydrolysate formula in at-risk infants.

This prospective, long-term study assessed the effects of a protein hydrolysate formula on allergy prevention in infants with a family history of allergy. Infants were randomly assigned to receive either the hydrolysate formula (n = 92) or an adapted cow milk formula (n = 85) alone or with breast-feeding for 4 months. The groups did not differ in family allergy history scores or cord blood IgE levels.