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 Syndrome.
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.
et al: Floating-Harbor syndrome. J Med Genet
et al: A variant example of familial Floating-Harbor syndrome? Genet Couns