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Rare association of macrocephaly, hypertelorism, short stature, and hearing loss. Other clinical features include sparse hair, hypertelorism, dowslanting palpebral fissures, and delayed psychomotor development.

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Bagatelle Cassidy Syndrome.

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First described by R. Bagatelle and S.B. Cassidy in 1995.

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One case report has been published. The parents were of European and Native American descent. Chromosomal and metabolic workup was normal.

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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 early infancy.

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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 55:367, 1995.  [PubMed: 7537019]

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