Harold N. Bass

Osteopathia Striata Syndrome Clinical, Genetic and Radiologic Considerations

Osteopathia striata, an autosomal dominant disorder, has been diagnosed in a 19-year-old mildly retarded woman. In addition, she has macrocephaly, a leonine facies, disfigurement of the lower jaw, a cleft palate and mixed hear ing loss. Roentgenograms of the skull and long bones show thickening of the calvarium, particularly at the base, mandibular hyperplasia, and striations in the long bones and pelvis. Except for the cleft palate, which has not been previously reported, and the retardation, which appears to be quite uncommon in this condition, these findings are characteristic of osteopathia striata. Be cause the disorder may resemble several other conditions, the differential diagnosis should include osteopoikilosis, the autosomal dominant form of osteopetrosis, and hyperostosis corticalis generalisata.

Features of trisomy 18 and 18p‐syndromes in an infant with 46, XY, i(18q)

An isochromosome for the long arm of chromosome number 18 ‐ 46, XY, i(18q) ‐ was found in an infant who had features of both trisomy 18 and 18p– syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker‐bottom feet. Those of 18p– syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, webbed neck, low posterior hairline, and widely‐spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes were normal.

Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree

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Churg-Strauss Syndrome in a 14-Year-Old Boy Diagnosed by Transbronchial Lung Biopsy

terized by eosinophilic pulmonary infiltration, extravascular granulomas, peripheral eosinophilia, and necrotizing vasculitis affecting small and medium-sized arteries and veins.’ A prodromal phase of allergic rhinitis and asthma typically lasts three to eight years.2 The mean age at onset of vasculitis is 38 years, and mean survival in one series of 30 patients was nine years.3 Diagnosis can be established on clinical grounds alone, or by renal, skin, or open lung biopsy. We recently cared for a 14-year-old boy with CSS diagnosed through transbronchial lung biopsy. The case is unique in two important respects: this patient is the youngest reported to date with this condition, and, to our knowledge, the first time transbronchial biopsy has been employed in CSS to obtain tissue for diagnosis. Moreover, the case underscores the need to consider CSS as a diagnostic possibility in asthmatic patients whose clinical picture deteriorates. Case Report A 14-year-old boy with a one year history of intermittent cough and wheezing was hospitalized for acute exacerbation of bronchial asthma and maxillary sinusitis. Outpatient treatment during the year preceding admission consisted of oral theophylline and inhaled cromolyn sodium and albuterol.

Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32.

To populate the chromosome 10 genetic landscape with clinical correlations we describe 3 non-overlapping, nearly contiguous deletions within chromosome 10q22.1q24.32. Three cases were studied by oligoarray comparative genomic hybridization (CGH), cytogenetics, and/or fluorescence in situ hybridization. The array CGH showed de novo deletions: arr 10q22.1q22.2(74,115,795–77,077,025)×1dn, arr 10q22.3q23.2(81,437,039–89,144,374)×1dn and arr 10q23.33q24.32(94,894,780–103,144,781)×1dn. Developmental delay, speech impairment and growth retardation were observed in all 3 patients. Facial palsy and renal dysplasia were the other notable findings. The renal dysplasia was ascribed to the loss of a PAX2 gene in the 10q23.33q24.32 deletion patient (OMIM *167409). The facial palsy was seen in the case with a deletion of 10q22.1q22.2. One of three 10q22.3q23.2 deletions involved low copy repeats. We have described the phenotype specific to the chromosome region involved within 10q22.1–q24.32. The oligoarray analysis improved the clinical management of the patients and enabled counseling for deleted genes.

10q(q23→qter) duplication: GOTs, HK1, and other gene markers

SummaryGene marker analyses have been carried out in a patient with 10q(q23→qter) duplication. The observed elevation of red cell glutamic oxaloacetic transaminase activity is compatible with earlier somatic cell hybridization studies that mapped the locus to this region. Hexokinase-1 activity in the red cells was normal, which is consistent with its prior assignment to the unaffected part of chromosome 10 (10pter→q23).

Evidence from somatic cells for crossing-over in humans

Chromosomal and gene marker studies of somatic cells in a family with multiple chromosome translocations show apparent instability of the translocations in transmission from generation to generation. This instability is attributed to meiotic crossing-over between the involved chromosomes. Technical advances in chromosome analysis combined with human gene map information in the study of this unusual family demonstrate for the first time that crossing-over involves exchange of chromatin between nonsister chromatids of homologous chromosomes.