Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome. We report here a case of a young adult presenting with several features consistent with this diagnosis. The differential diagnosis is discussed with respect to the absence of microcephaly and intrauterine growth retardation.
Lyonnet
S
S
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-12, Département de Pédiatrie, Hôpital des Enfants-Malades, Paris, France.
Schwartz
G
G
Gatin
G
G
de Prost
Y
Y
Munnich
A
A
Le Merrer
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D016569:Blepharophimosis / Q000235:genetics*; D004485:Eczema / Q000235:genetics*; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome