Nanism with short limbs, dysmorphism, renal dysplasia, growth hormone deficiency with pituitary hypoplasia and psychomotor delay: a new syndrome?
Elmer, C.; Van Vliet, G.; Heinrichs, C.; Toppet, M.; Christophe, C.; Perlmutter-Cremer, N.; Vamos, E.
Journal de Genetique Humaine 37(4-5): 367-372
1989
ISSN/ISBN: 0021-7743 PMID: 2635713 Document Number: 327480
The authors present the case of a male infant affected with short limbed dwarfism already detected in utero by ultrasound. In addition, facial dysmorphism, bilateral hypoplasia and dysplasia of the kidneys with altered renal function, hypotonia and non-evolutive developmental delay are noted. Endocrine tests show a severe and isolated growth hormone deficiency. Metabolic investigations are negative, including peroxisomal functions. Prometaphase chromosomes are normal. Bone x-rays reveal generalized osteoporosis with absence of post-natal osseous maturation and the presence of wormian bones. Major pituitary hypoplasia is demonstrated by nuclear magnetic resonance. The present observation is compared to the case reported by Stratton & Parker (Am. J. Med. Genet., 1989, 32, 169-173). Available data do not allow either to affirm or to exclude the identity of the syndromes presented by these 2 isolated cases.