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A newly recognized craniosynostosis syndrome with features of Aarskog–Scott and Teebi syndromes
Author(s) -
Hoffman Jodi D.,
Irons Mira,
Schwartz Charles E.,
Medne Livija,
Zackai Elaine H.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31780
Subject(s) - hypertelorism , craniosynostosis , palpebral fissure , medicine , ptosis , anatomy , surgery
Abstract 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. © 2007 Wiley‐Liss, Inc.