Three hemifascial microsomia patients and the review of the literature Üç adet hemifasiyal mikrosomia hastasi ve literatürün gözden geçirilmesi
Anatolian Journal of Clinical Investigation, cilt.3, sa.4, ss.252-255, 2009 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 3 Sayı: 4
- Basım Tarihi: 2009
- Dergi Adı: Anatolian Journal of Clinical Investigation
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.252-255
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Hemifascial microsomia (Oculoariculovertebral dysplasia) is a common birth defect involving first and second branchial arch derivatives. The incidence is approximately 1 in 6,500 live-birth. The clinical findings are highly variable. Therefore, the diagnosis of hemifascial mikrosomia is very hard in clinics. Craniofascial anomalies (aural, oral and mandibular development) are mostly seen. Additionally cardiac, vertebral and central nervous system defects are seen. Here three hemifascial microsomia patients were presented with the clinical findings, and these findings were correlated with the literature findings. Facial asymmetri, unilateral growth retardation of face, hypoplasia of facial musculature, mikrognatia, unilateral external ear deformity, preauricular tags, microtia and soft palate malfunction were common findings in all three patients. Nasal speech abnormalities probably due to soft pallade mulfunction were observed in all patients. Two patients had hearing loss findings. One patient was suffering from epibulbar dermoid, lipodermoid, the other patient had strabismus while one patient had no abnormality in his eyes. There was no urinary and vertebral anomaly of two patients but ectopic kidney, renal agenesis and scoliosis were seemed in one patient. Mental retardation was detected in two patients. There were no anomalies of heart, vascular and respiratory anomalies in our patients although they are common anomalies of hemifacial microsomia patients. These findings represent us that various systems and organs may be affected in the organisms of hemifascial microsomia patients. Because of that it is difficult to diagnose hemifasial microsomia and requires multidisciplinary approach.