Linkage data for familial incontinentia pigmenti (IP2) and 17 X chromosomal markers are reported. The linkage previously found between IP2 and the F8C locus is confirmed (Z max = 11.85 at theta = 0.028). Linkage is established with distal markers DXS1108 (Z max = 10.06 at theta = 0.00) and DXYS154 (Z = 9.07 at theta = 0.019). Multipoint analysis supports the distal localization of the IP2 gene with respect to the F8C locus.

The Coffin‐Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male‐to‐male transmission, suggests an X‐linked inheritance. The paper describes seven families from five European Centers.

Seventy-four children with juvenile chronic arthritis were entered into a 6-month, multicenter, comparative double-blind study of the efficacy of D-penicillamine versus placebo. The results were evaluated in 70 patients, 55 of whom completed 6 months of the study. Improvement was observed in the total number of stiff joints, total number of painful joints, and total severity index measuring joint pain. There was also a significant reduction in the concurrent use of nonsteroidal antiinflammatory drugs. D-penicillamine was well-tolerated in all but 2 patients. Some children in the placebo group exhibited definite improvement; however, relapses that were observed were mainly in that group. These results confirm the efficacy of D-pencillamine for the treatment of joint involvement in juvenile chronic arthritis.Juvenile chronic arthritis (JCA) is a heterogeneous disease which is not usually associated with the presence of IgM rheumatoid factor. Three types of onset have been described (1-3). The principal complication of this disease is the occurrence of progressive joint involvement. The systemic onset form can develop into chronic polyarthritis without systemic symptoms. The polyarticular onset form has an unpredictable course and can lead to severe polyarthritis. In some children who have the pauciarticular onset variety, the disease can progress insidiously to polyarthritis. This latter situation occurs especially in girls, with or without the presence of antinuclear antibodies in the serum.Slow-acting antirheumatic drugs (SAARD) such as D-penicillamine (DP) have been used for patients who have JCA with progressive joint involvement (4-7). The outcome of this disease is unpredictable, however, and in many patients, unexpected spontaneous improvement occurs. We therefore decided to conduct a double-blind multicenter study of the effect of DP versus that of placebo. PATIENTS AND METHODSThe study was approved by the ComitC d'Ethique Medicale de I'INSERM. All JCA patients who were admitted to the study met previously established diagnostic criteria (1). Criteria for exclusion were the following: persistence of systemic extraarticular symptoms, mainly spiking fever, during the previous 6 months; arthritic involvement of <4 joints; use of nonsteroidal antiinflammatory drugs (NSAID) not authorized for pediatric use in France; systemic corticosteroid therapy >0.5 mg/kg/day of prednisone or the equivalent; use of SAARD during the previous 3 months; any modification of treatment, including physiotherapy, during the past month; presence of renal, blood, or hepatic disorders during the previous 6 months; and history of penicillin allergy. The presence of at least 2 of the following inflammation criteria was necessary for admission to the study: erythrocyte sedimentation rate (ESR) >25 mmlhour, serum fibrinogen >400 mg/dl, and elevation ( > 2 SD) of IgG, IgA, or 1gM.

We present data on 4 mentally retarded brothers, 2 of whom were dizygotic twins with congenital hypotonia, constipation, head size disproportionately large for length or height, and a combination of minor anomalies suggestive of FG syndrome. These brothers have a mentally retarded full sister with similar minor anomalies and an older half-brother with the Martin-Bell syndrome. The mother is mentally retarded; 4 of 7 individuals are positive for fragile X, but all have a CGG expansion ranging from 0.2-2 to 4 kb. Although the phenotype is not completely typical of the FG syndrome and the coincidence of the FMR1 mutation and segregation of the MCA/MR phenotype are highly unlikely, the FMR1 mutation may affect morphogenesis more extensively and differently than the Martin-Bell syndrome does to effect an FG syndromelike phenotype in certain families. This phenotype does not appear to be a contiguous gene syndrome, but an effect of the FMR1 mutation on an adjacent gene must be considered.