[Phenyketonuria associated with Rubinstein-Taybi syndrome, spondylic dysplasia, left vascular shrinking of adrenal gland (author's transl)]

H Schönenberg; E H Radermacher; M Frank; W Klemm

[Phenyketonuria associated with Rubinstein-Taybi syndrome, spondylic dysplasia, left vascular shrinking of adrenal gland (author's transl)]

Klin Padiatr. 1977 Nov;189(6):482-9.

[Article in German]

Authors

H Schönenberg, E H Radermacher, M Frank, W Klemm

PMID: 414019

Abstract

Report of a 10 year old girl, who demonstrated the following diseases independent from each other: Phenylketonuria, Rubinstein-Taybi syndrome, dysplasias of the skeleton, especially dysplasia of the vertebra and finally, left-sided shrinkes adrenal gland, which caused presumably an increased production of androgens with a premature pubarche.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / complications*
Abnormalities, Multiple / diagnostic imaging
Adrenal Gland Diseases / complications*
Child
Female
Foot / diagnostic imaging
Hand / diagnostic imaging
Humans
Mucopolysaccharidosis IV / complications*
Phenylketonurias / complications*
Radiography
Rubinstein-Taybi Syndrome / complications*
Spinal Diseases / complications*
Spine / diagnostic imaging
Syndrome