Rare association of macrocephaly, hypertelorism,
short stature, and hearing loss. Other clinical features include sparse
hypertelorism, dowslanting palpebral fissures, and delayed psychomotor
Bagatelle Cassidy Syndrome.
First described by R. Bagatelle and S.B. Cassidy in 1995.
One case report has been
published. The parents were of European and Native American descent.
Chromosomal and metabolic workup was normal.
Features of the described child included
macrocephaly, widely open fontanelles, hypertelorism, broad and flat nasal
bridge, mild macroglossia, and mild micrognathia. Other features included
mild to moderate and static neurosensory hearing loss, hoarse and
low-pitched voice, short stature with short metacarpals, and mild
developmental delay. The child had a few apneic spells with feeding during
Features of midface dysplasia, mild
macroglossia, and mild micrognathia might lead to difficult direct laryngoscopy and tracheal
intubation. However, the described boy had surgery for chronic nasal and
sinus congestion and no anesthetic difficulties were reported.
Bagatelle R, Cassidy SB: New syndrome of macrocephaly, hypertelorism,
short limbs, hearing loss, and developmental delay. Am J Med Genet