Hallermann-Streiff syndrome: experience with 15 patients and review of the literature.
Hallermann-Streiff syndrome is rare, with approximately 150 case reports in the world literature. The syndrome consists of proportionate nanism; hypotrichosis; atrophy and extreme thinness of the skin, particularly over the facial area; an unusual "bird-like" face with mandibular hypoplasia; a prominent thin, pointed nose; congenital cataracts; and severe dental abnormalities. This appears to be a sporadic mutation, and the inheritance pattern is unknown. Clinical management must focus on the more life-threatening and developmental issues early on, and aesthetic deformities can be addressed after the adolescent growth period is complete. Surgical correction of cataracts should be undertaken early in life to preserve vision. Airway issues need to be addressed early. Other reconstructive procedures, including rhinoplasty, facial augmentation, and mandibular surgery, have been successful and can be performed later in life. We report on our clinical findings in 15 patients with this condition, our attempts at reconstruction, and complications we have encountered in treating this patient population. Five of our patients had produced normal chromosome studies, and none have had similarly affected siblings. Four have had normal, unaffected children. Most of our patients have undergone multiple reconstructive procedures and have done relatively well. Eleven of our patients, however, have encountered significant intermittent respiratory difficulty manifested as early feeding difficulty, recurrent upper respiratory tract infection, sleep apnea, and respiratory arrest. Three patients required tracheostomy because of respiratory difficulty, and one child died of postoperative respiratory compromise. The management of these complicated and difficult patients is discussed.
David
L R
LR
Department of Plastic and Reconstructive Surgery, Wake Forest University School of Medicine, Winston-Salem, North Carolina 27157-1075, USA.
Finlon
M
M
Genecov
D
D
Argenta
L C
LC
D000293:Adolescent; D000328:Adult; D005260:Female; D006210:Hallermann's Syndrome / Q000601:surgery*; D006801:Humans; D008297:Male; D008334:Mandible / Q000002:abnormalities / Q000601:surgery*; D009666:Nose / Q000002:abnormalities / Q000601:surgery; D019651:Plastic Surgery Procedures; D016896:Treatment Outcome