Prenatal diagnosis of a lethal multiple pterygium syndrome. Type II : Case report

• Published in: Fetal diagnosis and therapy Vol. 13; no. 1; pp. 35 - 38
• Main Authors: ENTEZAMI, M, RUNKEL, S, KUNZE, J, WEITZEL, H. K, BECKER, R
• Format: Journal Article
• Language: English
• Published: Freiburg Karger 1998; Basel S. Karger AG; Paris
• Subjects: Abnormalities, Multiple - diagnostic imaging; Adult; Biological and medical sciences; Diseases of mother, fetus and pregnancy; Fatal Outcome; Female; Forearm - abnormalities; Gestational Age; Gynecology. Andrology. Obstetrics; Hernia, Diaphragmatic - diagnostic imaging; Humans; Joints - abnormalities; Labor, Induced; Lymphangioma, Cystic - diagnostic imaging; Medical sciences; Polyhydramnios - diagnostic imaging; Pregnancy; Pregnancy. Fetus. Placenta; Scoliosis - diagnostic imaging; Syndrome; Ultrasonography, Prenatal; Sonography; Human; Skin disease; Pregnancy disorders; Congenital disease; Case study; Prenatal; Fetal diseases; Association; Complex malformation; Malformation; Echography; Pterygium colli; Fetus; Diagnosis
• ISSN: 1015-3837; 1421-9964
• DOI: 10.1159/000020798

Advances in ultrasound technology and sonographer's experience lead to the description of many rare syndromes and malformations through prenatal diagnosis. Diaphragmatic hernia is a rather common malformation but can be an indicator of different syndromes. We report the prenatal diagnosis of lethal multiple pterygium syndrome type II which has been established in the 34th week of pregnancy. The sonographically detectable symptoms consisted of polyhydramnios, hygroma colli, diaphragmatic hernia, scoliosis, short forearms, hypokinesia of the fetus and pterygia over the large joints. Labour was induced in the 34th week of pregnancy; the neonate died shortly after vaginal delivery as a result of the pulmonary hypoplasia. A multidisciplinary approach in prenatal assessment may help to clarify difficult diagnostic problems and may be of direct benefit for the pregnant patient.