The microcephaly-lymphoedema syndrome: report of an additional family.

Fourteen patients from six families have been reported in which microcephaly occurs in conjunction with lymphoedema, with no evidence of mental retardation or serious neurological disabilities. Chorioretinal dysplasia was noted in a small number of affected individuals. Inheritance was either autosomal dominant or X-linked and the question has been raised whether all these cases represent one entity or separate syndromes. We report the 7th family with two affected sibs of different sex. Developmental testing revealed normal to borderline intelligence associated with Attention Deficit Hyperactivity Disorder. The suggested mode of inheritance in this family is autosomal recessive. X-linked dominant inheritance cannot be ruled out, however, since the male was more severely involved than the female. We concur with previous authors that the association of microcephaly and lymphoedema is a distinct genetic syndrome and we propose to name this entity the 'microcephaly-lymphoedema syndrome'.

Chorioretinal lacuna in the amniotic band syndrome.

The malformations in the amniotic band syndrome (ABS) are due to entrapment of fetal parts by fibrous band in the amniotic sac. Limbs are most commonly affected followed by craniofacial defects in one third of patients. Ocular defects include corneal leukomas and lid colobomas often contiguous with facial clefts, strabismus, hypertelorism, and microphthalmos. Unilateral chorioretinal defects or lacunae are rare findings in the ABS. We report a female infant with such a lacunar defect along with central nervous abnormalities, and discuss the differential diagnosis and the embryopathic implications.

Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye.

The authors report the case of a male infant who presented with growth retardation and multiple congenital anomalies including bilateral cleft lip and palate, large glabella and broad nasal bridge. Eye examination revealed Rieger anomaly, nasolacrimal duct obstruction and mild microphthalmia bilaterally. In addition, shawl scrotum, nail hypoplasia and linear skin hypoplasia of the lower extremities were noted. Two G-banded chromosome studies were normal; prophase analysis showed 4p monosomy and 10q trisomy derived from a paternal balanced translocation. The clinical recognition of Wolf-Hirschhorn syndrome in this child, despite the two normal chromosome studies, allowed for the recognition of the cytogenetic aberration and identification of other family members who carry the balanced translocation.

The Weissenbacher-Zweymüller phenotype in the neonatal period as an expression in the continuum of manifestations of the hereditary arthro-ophthalmopathies.

The authors report the case of a female infant who presented with bilateral congenital glaucoma and myopia diagnosed at six weeks. Her facies was flat with a very low nasal bridge and a vascular nevus covering the glabellar area, micrognathia and high arched palate. The limbs appeared shorter proximally and a radiologic skeletal survey revealed dumbbell shaped long bones, flattened acetabular roofs, posterior defects in the vertebral bodies in the thoracic region, platyspondyly. Seen in follow-up at nine weeks, 14 months and 24 months, after several goniotomies which successfully controlled her intraocular pressure, she presented with high myopia, moderate hypotonia and hyperextensible joints. The midfacial hypoplasia persisted, but the skeletal X-rays showed that the long bones seem to acquire a more elongated appearance. Her mental and motor development, although five to nine months delayed, reflected regular progress. The clinical findings in this patient suggest that she belongs in the heterogeneous category of ophthalmo-arthropathies described by Weissenbacher and Zweymüller and which is thought to be the neonatal expression of the Stickler syndrome. The need for early recognition of this syndrome and a better grasp of the natural history of these disorders are emphasized in order to support the hypothesis of a continuum of manifestations of the hereditary arthro-ophthalmopathies.

Schwartz-Jampel syndrome: a case report. Stimulatory effect of calcium and A23187 calcium ionophore for protein synthesis in muscle cell cultures.

This report describes a 3-year-old male patient with dwarfism, generalized muscular hypertrophy, stiffness, myotonia, multiple skeletal deformities and normal intelligence. Serum creatine kinase was twice elevated. EMG showed 'dive bomber' discharges and muscle biopsy revealed mild to moderate myopathic changes with variability in fiber size and 'moth-eaten' fibers. Multiple muscle cell cultures showed significantly lower values of total protein synthesis as determined by (3H)-leucine incorporation. The addition of calcium and/or A23187 calcium ionophore to cultures significantly stimulated total protein synthesis in contrast to the lack of effect of these drugs in control cultures. These findings suggest a dysfunction of muscle sarcolemma in Schwartz-Jampel syndrome.

The syndrome of ring chromosome 12.

We have studied a 13 month-old girl with failure to thrive developmental delay, and dysmorphic features. At 13 months, the weight-age was 1 month, length-age was 3 months and head circumference was at the 3rd centile for 3 months. Physical findings were: Epicanthal folds, mildly cupped, apparently low-set ears, highly arched palate, short neck with low hairline, clinodactyly, and single crease of left 5th finger. The modal chromosome number was 46. Trypsin-G banding identified a ring chromosome 12; Karyotype was 46,XX,r(12)(p13q24).

Stability and comparability of intellectual measures for cerebral-palsied preschoolers.

Intelligence test scores on the Stanford-Binet Intelligence Scale and the Merrill Palmer Scale were studied for 23 cerebral-palsied children to determine the stability and comparability of these measures during the preschool years as well as the relationship of pyschological gains or losses to clinical diagnoses of the children. Test and posttest data were analyzed for subjects who had participated for one year in a special preschool program for children with neuromotor problems. A high correlation was found between the two intelligence tests both on pretesting (r = .89) and posttesting (r = .83). No significant differences were observed between IQs attained at the three-year level and IQs attained at the four-year level. No associative pattern between etiology of the disability, neuromotor involvement, and intelligence test patterns was determined.

Observations on patients with neural-tube defects in a metropolitan hospital clinic: an epidemiological history.

A survey of the population of the Spina Bifida Service (107 patients) of Georgetown University Hospital, Washington, D.C., and of a control population in the same hospital revealed that, although situated in an ethnically heterogeneous area, Service patients with a history of neural-tube defects in siblings or family significantly more often had ancestors on both sides from the British Isles than did either isolated cases or the controls. In addition, of 107 families reviewed, nine had more than one affected child, nine had a positive family history for neural-tube defects, and nine of the patients and seven of an estimated total of 220 siblings had an unrelated major birth-defect. These incidences are among the highest published so far. Contrary to other surveys, there was no deficiency of twinning among the sibships, nor of males among the Spina Bifida Service patients. These observations indicate the desirability of studying each population of patients with neural-tube defects in order to provide more realistic counseling and so that clues may be gathered as to the genetic mechanisms and environmental factors which led to the production of such defects.