Supra- and infraumbilical raphe with pectus excavatum.
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Biomedical subjects
Publications and source records attributed to T Aköz.
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We present a possibly new multiple congenital anomaly syndrome of craniosynostosis, Poland anomaly, cranio-fronto-nasal "dysplasia," and genital and breast anomalies. A similar pattern of anomalies was observed in two previous cases from the literature; however, some peculiar findings suggest that these cases might represent a new multiple congenital anomaly syndrome.
Multiple occurrences of pilomatrixoma are rare. Although it has been known as a benign lesion, there are reports of some tumors that have histopathologic features of malignancy. A case of a 68-year-old Caucasian women with multiple pilomatrixoma is presented. She was operated on to remove three other pilomatrixomas on the arms 3 years after the initial excision from the face. Two years after excision of the lesions on the arms, no recurrences were evident.
Craniofacial clefts are rare among facial anomalies, with an incidence of 1.5 to 5 per 100,000 births, and 1 per 100 cases of cleft lip and palate. The Tessier No. 4 oro-ocular cleft is one of the rarest, with 33 unilateral and bilateral clefts reported in the literature. Among the bilateral clefts only 3 of 9 involved Tessier No. 4 cleft bilaterally. We report a case of bilateral Tessier No. 4 craniofacial cleft and our approach to surgical correction.
Poland's Syndrome consists of unilateral absence of the pectoralis major muscle, ipsilateral symbrachydaktylia, and occasionally associated other malformations of the anterior chest wall and breast. Mild Poland's Syndrome is characterized by asymmetry of the breasts with partial absence of the pectoralis major muscle. This report describes a 19-year-old man with unilateral hypoplasia of the breast, absence of the anterior axillary fold, and absence of the pectoralis major muscle. The patient's chest wall was reconstructed with a customized silicone prosthesis. This reconstructive technique is a simple alternative to more complex surgeries or muscle transposition.
Extremity contractures are one of the most common deformities faced by the reconstructive surgeon. Major deformities with ankylosis of the related joint have to be managed by both soft tissue and bone operations. Contractures existing for a long period of time cannot be brought into anatomic position easily because of shortened tendons, nerves, and vessels or ankylosed joints. Although tendons can be lengthened in one operation, this is not the case for neural and vascular structures. The authors use external fixators associated with soft tissue procedures to gradually correct major foot dorsiflexion contractures.
We report a case with broad, deviated thumb and big, duplicated, deviated toes resembling Rubinstein-Taybi syndrome. But the patient did not have severe mental retardation as in Rubinstein-Taybi syndrome and had no microdeletions on chromosome 16 by FISH-based assay. This patient had mild webbing as seen in multiple pterygium syndrome, but broad-deviated thumb has not been reported in this syndrome. We discuss whether these are coincidental or overlapping findings or whether this is a possible new clinical entity.