RESUMO
Oculo-facio-cardio-dental syndrome is a very rare condition. So far, only nine cases have been documented. We report on three additional female patients representing the same entity. The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, ventricular septal defect, and skeletal anomalies. The following dental abnormalities were found: radiculomegaly, delayed dentition, oligodontia, root dilacerations (extension), and malocclusion. For the first time, fusion of teeth and hyperdontia of permanent upper teeth were seen. In addition, structural and morphological dental changes were noted. These findings expand the clinical spectrum of the syndrome.
Assuntos
Face/anormalidades , Cardiopatias Congênitas/genética , Anormalidades Dentárias/genética , Adolescente , Adulto , Anormalidades do Olho/genética , Feminino , Glaucoma/genética , Humanos , Fenótipo , Radiografia Panorâmica , SíndromeRESUMO
A female fetus showing severe growth retardation was delivered at 31 weeks of gestation because of fetal distress. At birth, the infant showed bradycardia and no spontaneous breathing. Although high frequency oscillatory ventilation was started, severe asphyxia persisted and the infant died of respiratory insufficiency. At the autopsy, the propositus showed microcephaly, prominent glabella, broad bridge of the nose, ocular hypertelorism, poorly differentiated and low-set ears, bilateral palatoschisis, and micrognathia. Midline closure defects of the cervical spine bodies, lower jaw, and skull base were seen at postmortem radiography. An extreme hypoplasia of both lungs, a large defect of the left diaphragm with upward displacement of viscera, and multiple cortical cysts in both kidneys were seen at postmortem examination. Karyotyping revealed a chromosomal imbalance with 46, XX, del(4) (pter-->13), characterizing the Wolf-Hirschhorn syndrome. Because diaphragmatic defects can occur in association with specific recognizable patterns of human malformation careful pathologic and genetic workup of all affected infants in crucial for accurate genetic counseling.