Prenatal diagnosis of the pterygium syndrome |
| |
Authors: | Dr Móshe Zeitune Moshe D Fejgin Jacques Abramowicz Noah Ben Aderet Richard M Goodman |
| |
Institution: | 1. Department of Obstetrics and Gynecology. ‘A’ Meir Hospital, Kfar Saba. Israel;2. Institute of Medical Genetics, Sheba Medical Center, Sackler School of Medicine, Tel Aviv University, Israel |
| |
Abstract: | We report two second trimester pregnancy terminations in the same woman following intrauterine ultrasonic findings of hydrops fetalis, polyhydramnios, lack of fetal movements, and short, fixed malformed limbs. One fetus also showed a cystic mass at the back of the head. Radiographic and anatomic studies of the fetuses demonstrated multiple pterygia, flexion contracture of multiple joints, abnormal facial appearance, cleft palate, pulmonary hypoplasia, and gracile bones. The cystic mass of the back of the head was found to be a cystic hygroma. These findings are consistent with the lethal variant of multiple pterygium syndrome. Early prenatal diagnosis of this condition is possible using ultrasonography. |
| |
Keywords: | Prenatal diagnosis Lethal multiple pterygium syndrome |
|
|