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T Ohzeki

Publications and source records attributed to T Ohzeki.

63 records · Page 4Linked to original sources
PubMed1982

An anthropometric study of cases with Turner syndrome and XYY.

Turner syndrome (45,X karyotype) is one of the few sex chromosome aberrations that can be recognized clinically during infancy or childhood. The features are short stature, broad shield chest, lymphedema of feet and legs, and webbed neck. On the other hand, boys with 47,XYY karyotype cannot be diagnosed from the clinical manifestations. Although the clinical features in Turner syndrome have been the subject of many reports, there have been few anthropometric studies on patients with Turner syndrome during childhood, and there have been no such studies on 47,XYY boys. This study was designed to determine the anthropometric characteristics of 11 patients with Turner syndrome diagnosed at the University Hospital, University of Tokyo, and 7 patients with 47,XYY found in a newborn survey in one maternity hospital in Tokyo.

Adolescent↗
PubMedDate not supplied

Immunodeficiency with increased immunoglobulin M associated with growth hormone insufficiency.

Growth hormone deficiency associated with hypogammaglobulinemia has been reported only in a few publications. Our patient was a male with recurrent episodes of infections. Serum immunoglobulin (Ig) G was extremely low although IgM concentration was much greater than the normal limit. Growth hormone responses to insulin, 1-Dopa and growth hormone-releasing hormone were low. The mean growth hormone concentration during sleep was less than the normal limit. These results are consistent with hyper-IgM immunodeficiency associated with growth hormone deficiency. The mode of transmission appears to be autosomal dominant. This combination has not been reported previously.

Adolescent↗
PubMedDate not supplied

Bone and joint manifestations of Rieger's syndrome: a report of a family.

Rieger's syndrome is a disease characterized by ocular anomalies usually associated with glaucoma but very rarely with bone and joint abnormalities. In three cases in a family with Rieger's syndrome, the proband was a 6-year-old girl, with involvement of her 9-year-old sister and 39-year-old father. The skeletal abnormalities found in these three individuals were a prominent posterior clinoid process (sella turcica), hypoplasia of the maxilla and the mandibula, pseudoepiphyseal center of the metatarsus and the metacarpus, and irregular ossification of the femoral head, the distal femoral, and distal tibial epiphyses and the short second and fifth metatarsi.

Adult↗