PubMed HealthSearch

PubMed · 536739

[Pseudodiastrophic dwarfism: a case report].

Abstract

On the occasion of one new possible observation of the pseudodiastrophic dworfism observed in a femal newborn, first child of young, non-consanguineous parents, authors discuss the differential diagnosis as well as the problem of genetic counselling in the present case since the child's father is a technician in radiology and exposed to X-rays during 7 years.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

N Canki, B Sernec-Logar, M Prodan, L Pintar. 1979. [Pseudodiastrophic dwarfism: a case report].. https://pubmed.ncbi.nlm.nih.gov/536739/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

[Rickets due to vitamin D deficiency--a reminder].

Vitamin D deficiency, because of prophylactic supplementation, has become a rare disorder in Switzerland and therefore is usually not considered in the clinical routine. In the few cases we could diagnose, the affected children either have been of East-Mediterranean origin with insufficient nutrition and vitamin supplementation, or were raised in families who, for philosophical or other reasons, refuse any "non-biological" measure including vitamin supplementation. For the orthopedic surgeon the challenging task is to screen out of the many children presented with physiologic gait "disturbance", bow-legs or flat feet the few children with true disorders. An important point is the history of vitamin D prophylaxis; in selected cases X-ray and laboratory findings are indicated. Finally the response to the treatment with vitamin D will confirm the diagnosis of rickets due to vitamin D deficiency.

Bone and Bones

Spondylometaphyseal dysplasia, Sedaghatian type.

In 1980 Sedaghatian described an Iranian infant who died shortly after birth. At autopsy, he was found to have subacute myocarditis, cortical necrosis of kidneys, and adrenal and pulmonary hemorrhage. His skeletal abnormalities included mild rhizomelic shortness of his limbs and platyspondylyl and "laciness" of the iliac wings. In 1987 Optiz et al. described another Iranian infant with a similar perinatal course and roentgenograms. This infant was born to first cousins, suggesting an autosomal recessive single gene defect. We report our findings of another infant with a lethal course.

Bone and Bones