Dubowitz syndrome in a boy without developmental delay: further evidence for phenotypic variability.
Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, epicanthal folds, blepharophimosis, ptosis, and broadening of the bridge and tip of the nose. The initial patients described had varying degrees of mental retardation and there is little information about long-term developmental outcome. We present a boy with Dubowitz syndrome who does not have developmental delays, providing additional evidence that the phenotype includes normal neurodevelopmental status.
Wallerstein
R
R
Division of Medical Genetics, Jefferson Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Kacmar
J
J
Anderson
C E
CE
Jackson
L
L
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002657:Child Development; D002675:Child, Preschool; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome