Macrocephaly, Hypertelorism, Short Limbs, and Hearing Loss Syndrome

At a glance

It is a rare medical condition characterized by the association of macrocephaly, hypertelorism, short stature with relatively short limbs, and hearing loss. Other clinical features include sparse anterior scalp hair, hypertelorism, downslanting palpebral fissures, short nose with a broad flat bridge, anteverted nares, and delayed psychomotor development. Radiologic screening is not associated with bone dysplasia, only short but proportional.

Synonym

Bagatelle Cassidy Syndrome.

History

It was first described by R. Bagatelle and S. B. Cassidy in 1995.

Incidence

The exact incidence remains unknown. There is only one case reported in the literature. The parents of the patient were of European and Native American descent.

Genetic inheritance

The chromosomal and metabolic workups were normal.

Clinical aspects

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.

Anesthetic considerations

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.

Pharmacological implications

There are no implications to be mentioned.

References