Eighty-seven families with early onset scoliosis were evaluated. These were divided into 3 groups: resolving infantile idiopathic scoliosis (15 families), progressive infantile idiopathic scoliosis (21 families), and congenital scoliosis due to vertebral malformations (51 families). The children with congenital scoliosis were subdivided into those who had closed neural arch defects (19 families) and those who did not (32 families). Resolving infantile idiopathic scoliosis was usually associated with plagiocephaly, and both deformations tended to show spontaneous recovery. These children were otherwise normal. Seven (33%) of the children with progressive infantile idiopathic scoliosis were mentally retarded, but only 2 had a congenital malformation. In contrast, 18 (33%) of the children with congenital scoliosis had other malformations, but only 2 were mentally retarded. The recurrence risk for scoliosis was low in each group studied. However, there was an increased risk (4% for sibs) of neural tube defects in the families with congenital scoliosis (with or without neural arch defects). This sib risk was apparent for probands with only a single hemivertebrum in addition to probands with more extensive vertebral defects and would support an etiological relationship between neural tube defects and other vertebral malformations.

We report on the molecular basis of the rare, folate-sensitive fragile site FRA11A in chromosome band 11q13 in a family with cytogenetic expression. Five individuals express the fragile site and one was mentally retarded. Expansion of a polymorphic CGG-repeat located at the 5′ end of the C11orf80 gene causes FRA11A. The CGG-repeat elongation coincides with hypermethylation of the adjacent CpG island and subsequent transcriptional silencing of the C11orf80 gene. This gene has no homology with known genes. A relationship between cytogenetic expression of the fragile site and the mental handicap seems unlikely, as FRA11A was found in a mentally retarded patient as well as in phenotypically normal carriers from the same family. However, incomplete penetrance cannot be entirely excluded.

We report three infants with a rare syndrome of restrictive dermopathy, in which rigidity of the skin at birth is associated with characteristic facial anomalies, generalised arthrogryposis, bony abnormalities, and lung hypoplasia. The skin has a distinctive pathology with compaction of the dermal coliagen and fibrosis of the subcutaneous tissue. The inheritance is likely to be autosomal recessive and the condition appears to be fatal in the early neonatal period.Several cases of the fetal akinesia/hypokinesia deformation syndrome have been described, where facial anomalies, arthrogryposis, and lung hypoplasia are associated. Examples include Pena-Shokier, NeuLaxova, cerebro-oculo-facio-skeletal, and lethal

Sixteen children and adolescents with a firm clinical diagnosis of Williams syndrome were investigated with the chromosome fluorescence in situ hybridisation (FISH)

The tendency for sibs affected by non-syndromal neural tube defect (NTD) to have the same type of lesion was assessed retrospectively in a series of 66 affected sibships from the west of Scotland. Different Not every series has shown concordance between affected sibs for the level of NTD. In an epidemiological study of NTD in Newfoundland, four out of 11 sib pairs were discordant for the level of lesion,4 and in a series of 38 sibships from south-east England, seven were discordant.5 In view of these conflicting results, we studied affected sibs from the west of Scotland to determine whether there was concordance for the type of NTD. MethodsA register of all infants and fetuses affected by neural tube defect (NTD) who were delivered in the west of Scotland was compiled by one of us (HMM) during 1976 to 1986. Cases were ascertained from multiple sources including records of the regional paediatric surgical and pathology services, the records of a population based prenatal screening programme for NTD, and personal examination of labour room records from every maternity hospital in the region. From this register, sibships with more than one affected subject were identified. From an initial total of 88 sibships, three sibships with Meckel syndrome and 19 sibships with insufficient clinical and pathological information were excluded from further analysis.Of 66 remaining sibships, 61 had two affected, four sibships had three affected, and one had four affected. None had consanguineous parents. The results of clinical and necropsy examinations were reviewed and the NTD was initially classified as either anencephaly (including anencephaly-spina bifida and occipital encephalocele) or spina bifida (open, closed, and occult spina bifida).In 48 of these sibships (43 with two affected, four with three affected, and one with four affected) more exact classification of the type of NTD was possible on the basis of precise clinical, pathological, or radiological description of the lesion. In this series the results of necropsy were available in 102 cases (100%) and 50 cases also had radiological studies performed.The classes of NTD which were distinguished are indicated in fig 1. In fig 2 we compare the frequencies of these various lesions in the familial series and a series of 197 consecutive, sporadic cases identified from NTD register entries made in 1980 to 1981. This classification scheme also permits low spina bifida (NTD sited below vertebral level T12) to be