Ontology highlight
ABSTRACT:
SUBMITTER: Ballini A
PROVIDER: S-EPMC3039604 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Ballini Andrea A Cantore Stefania S Tullo Domenica D Desiate Apollonia A
Journal of medical case reports 20110127
<h4>Introduction</h4>Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, pr ...[more]