Kiyosato Matsuo

Dominant inheritance of Kabuki make-up syndrome

We report on a total of 4 individuals in 2 families with Kabuki make-up syndrome. In family 1, the proposita, a 2 4/12-year-old girl and her mother had typical Kabuki make-up syndrome. The proposita also had early breast development. In family 2, the proposita, a 6-month-old girl and her mother had typical Kabuki make-up syndrome. The proposita died at age 6 months. Analysis of 2 families indicates that the condition is an autosomal dominant inheritance with variable expressivity.

Protein-losing enteropathy in a boy with systemic lupus erythematosus.

1. Kern F Jr: Hepatobiliary disorders in inflammatory bowel disease, in Popper H, and Schaffner F, editors: Progress in fiver diseases, New York, 1976, Grune & Stratton, Inc., pp 575-589. 2. Fleisher TA, Luckasen JR, Sabad A, et ah T & B lymphocyte subpopulations in children, Pediatrics 55:162, 1975. 3. Luckasen JR, White JG, and Kersey JH: Mitogenic properties of a calcium ionophore, A23187, Proc Natl Acad Sci USA 71:5088, 1974. 4. Nakamura RM: Immunopathology: Clinical laboratory concepts and methods, Boston, 1974, Little, Brown & Company. 5. Westberg NG, Naff GB, Boyer JT, et al: Glomerular deposition of properdin in acute and chronic glomerulonephritis with hypocomplementemia, J Cfin Invest 50:642, 1971. 6. Michael AF, Drummond KN, Good RA, et ah Acute poststreptococcal glomerulonephritis: Immune deposit disease, J Clin Invest 45:237, 1966. 7. Werlin SL, Gficklich M, Jona J, and Starshak RJ: Sclerosing cholangitis in childhood, J PEDIATR 96:433, 1980. 8. Freese D, Latimer JS, Gilberstadt S, Kane W, and Sharp H: Therapeutic response of the pericholangitis in the liver lesion associated with inflammatory bowel disease, Gastroenterology 78:1168, 1980.

Familial supernumerary non-satellited microchromosome

A small, non‐satellited and metacentric supernumerary chromosome was ascertained in an amniotic fluid cell culture. The supernumerary chromosome was present in four of seven family members karyotyped. Of these four carriers, two were phenotypically normal, while the other two, the fetus and its elder sister, suffered from methylmalonic acidemia. The supernumerary chromosome was apparently stable, being transmitted through three generations without causing mosaicism. It had a single C band, seven G bands and was silver staining negative, a hitherto undescribed situation.

Borjeson-Forssman-Lehmann syndrome in a girl

SummaryA 3 11/12-year-old Japanese girl was found to exhibit typical clinical features of the Borjeson-Forssman-Lehmann syndrome, including severe mental retardation, epileptic seizures controllable by anticonvulsants, obesity, microcephaly, a coarse facies with prominent supraorbital ridges and deep-set eyes, bilateral internal strabismus, large ears, small hands with tapering hyperextensible fingers and metaphyseal widening of the long bones. She showed hyperresponsive patterns of serum luteinizing and follicule-stimulating hormones upon LH-RH loading. Her karyotype was normal. The parents were mentally and phenotypically normal. The inheritance of the disease was compatible with X-linked recessive in six kindreds in the literature. Skewed X inactivation was considered the most likely mechanism for the occurrence of the disease in a girl.

Hearing impairment in two boys with I-cell disease

Auditory brainstem responses (ABR) were analyzed in 2 boys with I-cell disease. Both patients showed a prolonged latency of wave I, a normal I-V interpeak latency and an elevated threshold of wave V. The intensity-latency curve had a steep slope. These abnormal ABR findings reflect the presence of conductive hearing impairment associated with the cochlear component in I-cell disease.

EARLY ONSET OF MENSTRUATION IN A 45,X GIRL

SummaryA girl with short stature developed breasts at age 10 and began menarche at 10.3 years. When examined by us at age 15 years, she had had regular menstrual cycles. Chromosome analyses using PHA- and EB virus-stimulated lymphocytes and cultured skin fibroblasts from both elbows all revealed an exclusively 45,X karyotype. Both buccal smears and hair root cells were negative for the X-chromatin.