New syndrome of macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay.
We describe a boy with an apparently unique constellation of anomalies, including macrocephaly, short stature, relatively short limbs, hearing loss, developmental delay, sparse anterior scalp hair, hypertelorism, downslanting palpebral fissures, and a short nose with a broad, flat nasal bridge and anteverted nares. Chromosomes were normal and radiographs failed to show a bone dysplasia. We conclude that this represents a new syndrome.
Bagatelle
R
R
Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA.
Cassidy
S B
SB
D000015:Abnormalities, Multiple; D002658:Developmental Disabilities; D006312:Hearing Loss, Bilateral; D006801:Humans; D006972:Hypertelorism; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome