Rare, autosomal dominant syndrome associated with
short stature, delayed bone age, and characteristic triangular face with a
prominent nose and deep-set eyes. Language delay is frequent (usually in the
presence of normal motor development).
Leisti Hollister Rimoin Syndrome; Pelletier-Leisti
The unusual name of this syndrome is derived from the
Boston Floating Hospital and the Harbor General Hospital, where the first
cases were described.
Features include characteristic facies (dolichocephaly/scaphocephaly,
short neck, prominent occiput, triangular face, short midface, low-set ears,
broad nasal root, bulbous nose, long eyelashes, enophthalmos, thickened
gingivae, narrow palate), limbs anomalies (brachydactyly, delayed bone age, joint
dislocation, restricted joint mobility, clinodactyly of toes, clinodactyly
of fifth finger), genitourinary signs (micropenis, urethral anomalies), and short stature.
Difficult feeding in infancy, mental retardation, and speech defect are
common. Cardiac septal defect and celiac disease may be associated.
Tracheal intubation can be difficult
because of skull and neck abnormalities and may require adapted anesthetic
management. Avoid using muscle relaxants until airway is secured. Careful
intraoperative positioning is needed. Prophylactic antibiotics in case of
cardiopathy as indicated.
Patton MA, Hurst J, Donnai D, et al: Floating-Harbor syndrome. J Med Genet
Penaloza JM, Garcia-Cruz D, Davalos IP, et al: A variant example of familial
Floating-Harbor syndrome? Genet Couns