Biomedical subjects

A Giedion

Publications and source records attributed to A Giedion.

At least 55 records · Page 3Linked to original sources

PubMed1976

Hand-foot-uterus-(HFU) syndrome with hypospadias: the hand-foot-genital- (HFG) syndrome.

Three brothers with the typical findings of the HFU-syndrome, but in addition with various degrees of hypospadias are reported. The family history otherwise was negative. The similarity of the "pattern-profile" of these cases with the mean pattern of the 11 previously reported ones is striking, as expressed by a product moment correlation of 0.83, 0.8 and 0.78 respectively. The widening of the concept of the HFU to that of a HFG-syndrome, as suggested by Poznanski et al, in 1974, is discussed.

Child↗

PubMed1976

Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.

A 14-year-old girl with a unique type of progressive spondyloepiphyseal dysplasia, corneal clouding, and no evidence of neurological abnormality, was found to have a remarkable deficiency of acid beta-galactosidase activity in cultured skin fibroblasts and in leucocyte preparations. In fibroblasts, ganglioside GM1 beta-galactosidase activity averaged 7% of the normal mean while asialofetuin beta-galactosidase and 4-methylumbe lifery-beta-galactosidase averaged 1.4% and 3.5%, respectively. Activities for all three substrates in leucocytes from both her parents were close to 50% of the normal mean indicating that the patient is homozygous for a mutation (or mutations) affecting GM1 beta-galactosidase.

Adolescent↗

PubMed1976

The radiological diagnosis of the fetal-face (= Robinow) syndrome (mesomelic dwarfism and small genitalia). Report of 3 cases.

Report of 3 cases with Robinow syndrome. Analysis of the X-ray findings, including the formerly reported cases. On radiological grounds, the diagnosis of the Robinow syndrome is possible by the combined observation of mesomelic shortening of the extremities, hemivertebra formation and fusion anomalies of spine and of the ribs. The "splitting" of terminal (bifid) phalanges and toes is a facultative, but highly diagnostic radiological sign. In 2 cases, the pattern profiles were of considerable similarity. The practical importance of the correct diagnosis in this syndrome is emphasized.

Adolescent↗

PubMed1975

The widened spectrum of multiple cartilaginous exostosis (MCE).

2 brothers with possible homozygous multiple cartilaginous exostosis (MCE) are reported. The MCE-PD-(Peripheral Dysostosis) syndrome is discussed. A family (father, daughter and son) with Metachondromatosis is presented, and the tendency to spontaneous remission in this condition is emphasized. A "second thought", when considering the diagnosis of mce, seems worthwhile.

Child↗

PubMed1974