1.
Pediatr Crit Care Med
; 22(4): e275-e277, 2021 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33790215
2.
Pediatr Crit Care Med
; 20(5): 492-493, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31058787
3.
s.l; s.n; 1967. 6 p. ilus, graf.
Não convencional
em Inglês
| Sec. Est. Saúde SP
| ID: biblio-1242446
RESUMO
A family in which deafness, knuckle pads and leukonychia are inherited as a syndrome is descriubed. The inheritance pattern is that of an autosomal dominant. The hering loss is due to a lesion in thge cochlea sometimes with a superimposed conductive loss. Keratoderma palmare et plantare may also be a feature of the syndrome. Laboratory investigations including urinary amino acid and acvid mucopolysacharide studies as as well as peripheral lymphocyte chromosome counts were unrevealing