Updated 2006-01-18 by Juliana Leite, MD

Original text 1999-05-05 Philippe Jeanty, MD, PhD & Sandra R Silva, MD

Synonyms: Lethal contractural syndromes.

Definition: Massive and early hydrops with cystic hygroma and joint contractions. Pterygium is used to describe webbing of the skin across the joint. The term means "wing-likeâ€. Limb pterygia at birth indicates an abnormal developmental process probably occurring in the first trimester and involving reduced mobility of the webbed limb. The severity of the web apears to correlate directly with the degree of hypomobility of the affected joint and with the time in development at which the movement reduction began. This syndrome consists of a constellation of multiple anomalies associated with fetal akinesia sequence and fixation and hypomobility of the joints.

Incidence: Unknown but not rare in the first trimester.

Etiology: Autosomal-recessive syndrome, with a few cases suggesting an X-linked transmission or a glycogen storage disease type IV.

Pathogenesis: The data suggest that the syndrome combines the manifestations of a jugular lymphatic obstruction sequence with those of an early severe fetal akinesia sequence with two possible mechanisms: an abnormally fragile collagen constitution or an early fetal muscular "dystrophy"

Diagnosis: In the first trimester, the appearance of a thickened nuchal lucency extending around the whole body and, to a lesser extent, the limbs is characteristic. These fetuses have hydrops and bob along in the fluid when shaken. Occasionally the diagnosis is not made until later in the pregnancy, at a time when the hypokinesia, the joint contractions and the multiple pterygia are more visible. Other findings can be: polyhydramnios, craniofacial/ocular findings, short forearms of the fetus, pulmonary hypoplasia, diaphragmatic hernia, scoliosis and fractures.

Figure 1: Section through the neck of a twin with lethal pterygium.  Note the thickened soft-tissues and the cystic hygroma.

Genetic anomalies: Unknown.

Differential diagnosis: Some of the severe aneuploidies may also present with hydrops that early. The arthrogryposes (fetal akinesia sequence), the cerebro-oculo facio-skeletal syndrome and the Pena-Shokeir syndrome show joint contractions too, so they should be considered in the differential diagnosis. But the most obvious ultrasound finding in lethal multiple pterygium syndrome is not the contractions but the hydrops. Limited pterygia of the popliteal regions can also be seen in fetuses with caudal regression syndrome. Noonan syndrome also presents with cystic hygroma.

Associated anomalies: Some vertebral and other bony anomalies can be present.

Prognosis: Lethal.

Management: Termination of pregnancy can be offered before viability. Standard prenatal care is not altered when continuation of the pregnancy is chosen. Confirmation of diagnosis after birth is important for genetic counseling.

References:
1: Cox PM, Brueton LA, Bjelogrlic P, Pomroy P, Sewry CA. Diversity of neuromuscular pathology in lethal multiple pterygium syndrome.  Pediatr Dev Pathol. 2003 Jan-Feb; 6(1):59-68. Epub 2002 Nov 7.
2: Sergi C, Poeschl J, Graf M, Linderkamp O. Restrictive dermopathy: case report, subject review with Kaplan-Meier analysis, and differential diagnosis of the lethal congenital contractural syndromes. Am J Perinatol. 2001; 18(1):39-47.
 3: Entezami M, Runkel S, Kunze J, Weitzel HK, Becker R. Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report. Fetal Diagn Ther. 1998 Jan-Feb; 13(1):35-8.
4: Landau D, Mishori-Dery A, Hershkovitz R, Narkis G, Elbedour K, Carmi R. A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred. Am J Med Genet A. 2003 Feb 15; 117(1):37-40.