1/3. Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndrome.Aarskog syndrome (faciogenital dysplasia) is an X-linked recessive genetic growth disorder characterized by short stature, dysmorphic facies, shawl scrotum, and digital anomalies. The condition was first described in 1970 and the gene responsible is FGD1 (MIM#305400). There are several reported ophthalmic findings associated with Aarskog syndrome which are discussed. We describe a case of Aarskog syndrome with venous tortuosity, optic nerve hypoplasia, and a type-2 antithrombin deficiency.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
2/3. Ossicular abnormality in Larsen's syndrome: a case report.Larsen's syndrome consists of a skeletal dysplasia with multiple joint abnormalities and a characteristic facies. No reports of this syndrome have documented hearing loss due to ossicular joint abnormalities. A 6-year-old girl is presented with the characteristic abnormalities of Larsen's syndrome, a normal otoscopic examination, and significant bilateral conductive hearing loss. Exploratory tympanotomy demonstrated an incudostapedial joint abnormality, as well as a fixed stapes footplate. The possibility of ossicular joint abnormalities, in addition to the other joint abnormalities associated with this syndrome, must be considered.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
3/3. Examine your orofacial cleft patients for Gorlin-Goltz syndrome.The Gorlin-Goltz syndrome is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; skeletal anomalies; and intracranial calcifications. A myriad of additional findings may also be noted. Among the most frequent are: palmar and plantar pits, a characteristic flattened facies and broad nasal root, frontal and parietal bossing, mandibular prognathia, hypertelorism, strabismus, dystrophia of the canthi, and clefts of the lip, alveolus, and/or palate. In this study, we review the literature and our 25 cases of Gorlin-Goltz syndrome patients, questioning their incidence of cleft formations (8.5%) as compared to the general population (0.1%). It is our contention that all patients who present with an orofacial cleft warrant deeper investigation as to the presence of additional signs indicative of Gorlin-Goltz syndrome. The nevi turn malignant with time, and thus, early diagnosis, follow-up, and treatment are imperative.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |