Cleft palate and complex chromosome rearrangements.

Two of three unrelated children with de novo congenital complex chromosome rearrangements (CCR) with more than four chromosome breaks had cleft lip and palate as one of several congenital anomalies. In patient 1, unilateral complete cleft of the primary and secondary palates accompanied severe ectrodactyly, bilateral posterior choanal atresia and several minor congenital anomalies. Karyotypes of peripheral lymphocytes and skin fibroblasts showed five derivative chromosomes with six break points. There were two translocations, t(2;5), t(3;11) and an interstitial deletion, del(13)(q12q14). Patient 2 had a bilateral complete cleft of the lip and palate, in addition to slow pre- and postnatal growth and minor congenital anomalies. Peripheral lymphocytes and palatal mucosa fibroblasts karyotypes showed five derivative chromosomes with six break points. A partial deletion of 10p, two translocations, t(2;3), t(7;18) and an inversion of the derivative chromosome 2 were present. In both patients, a "major catastrophe" of unknown etiology in one of the parental gametes appeared to be the event leading to the stable CCR without evidence of persistent chromosome instability. All four parents had normal karyotypes. The presence of palatal clefts in these patients indicates that dysmorphologists and pediatricians have to consider CCR whenever taking care of a patient with cleft palate, particularly if additional anomalies, no matter how subtle, are present. The detection and interpretation of the latter anomalies are essential for the diagnosis and management of these patients. Accurate cytogenetic diagnosis determines the short- and long-term prognosis and facilitates genetic counseling in regard to life-span, quality of life and reproductive plans of patients and parents.

The pectoralis major myocutaneous flap: an angiographic study.

A new era in head and neck reconstruction has been opened with the use of myocutaneous flaps. The pectoralis major myocutaneous flap is considered the most reliable of its kind but flap failures still occur secondary to tension and infection. Our standard procedure has been to follow the acromioxiphoid line as a guide to the location of the blood supply of the pectoralis major muscle. We have noticed in the operating room and during cadaver dissection that the vascular supply is sometimes more laterally located than usually described. A review of the vascular supply of this anatomic area using angiographic studies of the subclavian and its branches is presented, with important findings critical to the surgical technique used to protect the flap's blood supply.

Diagnosis and management decisions in infections of the deep fascial spaces of the head and neck utilizing computerized tomography.

Infections of the deep spaces of the head and neck may still result in major consequences despite the advent of antibiotics. Abscesses in these areas merit special consideration by today's head and neck surgeon because of their relative rarity and the life-threatening complications that may follow inadequate treatment. Diagnosis and management decisions are enhanced by use of computerized tomography (CT) as an adjunctive study. The EMI scan may demonstrate either cellulitis of the neck requiring no surgery or a space abscess displacing the adjacent structures thus requiring surgical drainage. Anatomy of the significant fascial planes and spaces of the neck will reviewed employing CT utilizing 3 mm cuts. Specific case presentations feature early diagnosis and management.

Bilateral chylothorax. Rare complication of neck dissection.

Bilateral chylothorax is an extremely serious complication that affects the cardiorespiratory system and places the patient in serious danger of respiratory collapse. In cases of postoperative chyle fistula or chylomas, one should consider the possibility of chylothorax. Chest film and, subsequently, diagnostic thoracentesis can provide the diagnosis. Conservative treatment, such as repeated thoracentesis, low-triglyceride diet, and possibly closed thoracostomy tube drainage, should be used. The surgical approach for the ligation of the thoracic duct should be reserved for cases that do not respond to the previously mentioned conservative measures.

Dermoid cysts of the floor of the mouth and lateral neck.

Dermoid cysts of the floor of the mouth and submandibular area represent an unusual clinical entity. We present three such cases and review their clinical presentation and pathologic classification. This study stresses the importance of recognizing and excising any tract leading from such cysts to the midline mandible or hyoid, in order to avoid a recurrence, since these tracts may be epithelialized.

Use of tragal cartilage with the total ossicular replacement prosthesis.

A method was developed for the use of tragal cartilage and perichondrium with the total ossicular replacement prosthesis. The method involves securing the flat base of the prosthesis in a perichondrial tunnel on the cartilage to stabilize the prosthesis, prevent extrusion, and promote vascularization.