1.
Clin Dysmorphol
; 6(3): 229-31, 1997 Jul.
Article
in English
| MEDLINE
| ID: mdl-9220192
ABSTRACT
We report on a family with leukonychia totalis, koilonychia and multiple sebaceous cysts segregating as an autosomal dominant disorder. This condition has only previously been described in two kindreds, and this report documents the natural course of the disorder and provides further evidence for pancreatitis being an associated syndromic feature.
Subject(s)
Epidermal Cyst/genetics , Nails, Malformed/genetics , Adult , Epidermal Cyst/pathology , Female , Genes, Dominant , Humans , Middle Aged , Nails, Malformed/pathology , Pancreatitis/genetics , Phenotype , Syndrome
2.
J Med Genet
; 28(6): 413-4, 1991 Jun.
Article
in English
| MEDLINE
| ID: mdl-1870098
ABSTRACT
A girl aged 2 1/2 years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13)(q12.2]. This is the second report concerning involvement of chromosome 13q and Moebius syndrome. The observation raises the possibility that a gene responsible for Moebius syndrome is located in this region of chromosome 13.
