[A fatal syndrome associating a micromelic dwarfism, an ichthyosiform skin disorder and a severe combined immunologic deficiency. Report of a case and survey of the literature (author's transl)].
Congenital immunologic deficiencies and congenital dwarfisms represent two seemingly unrelated disorders. Here is reported the tenth case of a definite congenital and fatal syndrome associating a severe combined immunologic deficiency and a micromelic dwarfism, affecting mainly the proximal limbs, as well as an ichtyosiform and furrowed skin disorder. Although the adenosine deaminase activity has not been determined in this patient, a 4-month old boy, this syndrome seems to be different from cases of ADA negative SCID. The associated impairment of growth and immunity emphasizes once more the close genetic linkage existing between the development of the skeleton and the lymphoid tissue.
D000243:Adenosine Deaminase / Q000172:deficiency; D004392:Dwarfism / Q000473:pathology*; D006801:Humans; D006811:Humerus / Q000473:pathology; D007057:Ichthyosis / Q000473:pathology*; D007153:Immunologic Deficiency Syndromes / Q000473:pathology*; D007223:Infant; D008297:Male; D012867:Skin / Q000473:pathology; D013577:Syndrome; D013950:Thymus Gland / Q000473:pathology
D000243:Adenosine Deaminase
Un syndrome associant un nanisme micromélique, une dermatose ichtyosiforme et un déficit immunitaire mixte grave. A propos d'une observation anatomo-clinique avec revue de la littérature.