Dubowitz syndrome

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Micrognathia

Developmental hypoplasia of the mandible.


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(per page)
PMID (PMCID)
23074674
(3447229)
 OTHER
Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome.
Darcy DC, Rosenthal S, Wallerstein RJ.
Case Rep Genet. 2011;2011:306072.
Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.
20532061
(2881528)
 OTHER
Anesthesia of a patient with Dubowitz syndrome -A case report-.
Lee MK, Lee YS.
Korean J Anesthesiol. 2010;58(5):495-9.
The peculiar face of individuals with Dubowitz syndrome includes sparse hair and eyebrows, low-set ears, blepharophimosis, bilateral ptosis, a flat nasal bridge with a broad nasal root and micrognathia.