A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.
We present two unrelated boys with craniosynostosis and similar facial features including hypertelorism, down-slanted palpebral fissures, ptosis, broad mouth with a thin upper lip, and preauricular pits. Both patients had short, broad first digits as well as short, broad hands. Both also had respiratory difficulties and umbilical abnormalities. Although, many of these features are seen in Aarskog-Scott and in Teebi hypertelorism syndromes, both children had craniosynostosis, which has not been previously reported in either syndrome. We propose that these children may have a previously unreported syndrome consistent with X-linked inheritance, although an autosomal dominant mode of transmission cannot be excluded.
Hoffman
Jodi D
JD
Division of Genetics, Department of Pediatrics, Tufts-New England Medical Center, Boston, Massachusetts 02111, USA. jhoffman@tufts-nemc.org
Irons
Mira
M
Schwartz
Charles E
CE
Medne
Livija
L
Zackai
Elaine H
EH
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D003398:Craniosynostoses / Q000235:genetics / Q000473:pathology*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype