1.
An Esp Pediatr
; 15(5): 498-502, 1981 Nov.
Article
in Spanish
| MEDLINE
| ID: mdl-7332154
ABSTRACT
A case of Smith-Lemli-Opitz syndrome is reported in an 8 year old boy of related parents. He presented clinical features of the syndrome, with a normal male karyotype, distal axial triradii and increased number of whorl dermatoglyphic. Cerebral T.A.C. revealed an hypodensity zone in the left cerebral hemisphere. Authors studied the hypotalamo-pituitary axis finding a normal secretion of FSH and LH. The secretion of TSH and PRL under TRH stimulation showed an enhanced response. Plasma GH response to insulin induced hypoglycemia plus L-arginine was within normal limits.