PRENATAL DIAGNOSIS, VOL. 8,145-149 (1988)

SHORT COMMUNICATION

PRENATAL DIAGNOSIS OF THE PTERYGIUM SYNDROME

MOSHE ZEITUNE*, MOSHE D. FEJGIN*, JACQUES ABRAMOWICZ*, NOAH BEN ADERET* AND RICHARD M. GOODMAN?

*Department of Obstetrics and Gynecology, #A Meir Hospital, Kfar Saba. Israel and 7 Institute of Medical Genetics. Sheba Medical Center, Sackler School of Medicine, Tel Aviv University. Israel

SUMMARY 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.

KEY WORDS Prenatal diagnosis Lethal multiple pterygium syndrome

INTRODUCTION

Multiple pterygium syndrome (MPS) is a rare autosomal recessive disorder charac- terized by webbing of the neck and extremities. Two types have been described : the classical form appearing in children and adolescents (Escobar et al., 1978 ; Chen et al., 1980), and the lethal form involving abortuses and stillbirths (Gillin and Pryse-Davis, 1976; Elias et al., 1978; Hall et al., 1982; Chen et al., 1984; Van Regemorter et al., 1984; Isaacson et al., 1984).

The purpose of this brief report is to present a woman in whom two consecutive pregnancies were terminated in the second trimester based on abnormal ultrasonic findings, which subsequently revealed that both fetuses had the lethal form of MPS.

REPORT OF CASES

A 24-year-old primigravida woman was referred for routine ultrasonic examination at 22 weeks’ gestation. Her past medical history was uneventful. The husband was

Addressee for correspondence: Dr Moshe Zeitune, Dept. Obstetrics & Gynecology, ‘A’ Meir Hos- pital, Kfar Saba, Israel.

01 97-385 1 /88/020145-O5%05.00 0 1988 by John Wiley & Sons, Ltd.

Received 14 October 1986 Revised8 March 1987

Accepted 17 April I987

1 46 M. ZEITUNE ETAL.

Figure 1. Cystic structure at the back of the head as seen on ultrasonography

26 years old and healthy. The couple was not related. Neither family had a history of congenital anomalies.

Ultrasonic findings revealed polyhydramnios, hydrops fetalis, short and fixed limbs, and a cystic mass at the back of the head (Figure 1). No fetal movements were observed. Repeated studies confirmed these findings. The pregnancy was terminated using an extra-amniotic infusion of prostaglandin E2. The fetus was a female, weighing 430 g. Physical findings showed generalized oedema, multiple pterygia (cervical, axillary, antecubital, crural, and popliteal), hypertelorism, flat nose, low set ears, cleft palate, short neck, microglossia, cystic hygroma, long slender bones, clubbed feet, and contracted fingers. No internal malformations were found on autopsy.

Seven months later, the patient conceived again. In addition to ultrasound studies, she also had an amniocentesis at 16 weeks’ gestation. Chromosome studies showed a normal female karyotype and the alphafetoprotein was normal. Ultrasound performed at 18 weeks demonstrated polyhydramnios with a motion- less fetus at the bottom of the amniotic sac, fixed short limbs, and clubbed feet (Figures 2 and 3). Repeated ultrasonic examinations showed the fetus to be in the same position, and marked hydrops fetalis developed.

After discussion with the couple, this pregnancy was also terminated in the same fashion at 25 weeks’ gestation. The fetus was a female and had a very similar appear- ance to the first one, but without cystic hygroma (Figures 4 and 5) . Autopsy findings showed hypoplastic lungs and adrenals. Skeletal X-rays showed very slender long bones, gracile ribs, hypoplastic scapula, iliac wings and ischia, and absence of the clavicles. The vertebral bodies were also hypoplastic, but not fused.

MULTIPLE PTERYGIUM SYNDROME

Figure 2. Ultrasonic lateral view of the fetus showing flexed, fixed upper limbs

Figure 3. Ultrasonic picture showing polyhydramnios and flexed, fixed forearm and hand

147

148 M. ZEITUNE ETAL.

Figure 4. Gross appearance corresponding to the ultrasonic picture shown in Figure 2.

DISCUSSION

Lethal multiple pterygium syndrome is an autosomal recessive disorder charac- terized by multiple flexion contractures with skin webs across the joints, cystic hygroma of the neck, hydrops fetalis, polyhydramnios, and hypoplastic lungs.

Figure 5. Gross appearance of fetus

MULTIPLE PTERYGIUM SYNDROME 149

Recently, a new classification has been suggested by Hall (1984), based on the existence of bony fusions and modelling errors of the bones: (1) without bone fusion, but with tightly flexed limbs; (2) with spinal fusion; (3) with congenital bone fusions.

Both fetuses described in this report belonged to the first type. Non-lethal forms do not occur in families with the lethal types. This consistency of phenotype within families is of importance in genetic counselling and prenatal diagnosis in subsequent pregnancies. Prenatal diagnosis as early as 20 weeks’ gestation using ultrasonogra- phy has been postulated (Hall et al., 1982; Chen et al., 1982, 1984).

Because skin webs cannot be seen consistently on ultrasound, fetoscopy may be needed in patients with a suspicious finding on ultrasonography, and in whom there is no family history of the disorder. However, in cases like ours, with a pre- vious sib or other relative with lethal MPS, the ultrasonic findings of poly- hydramnios, hydrops fetalis, short and fixed limbs, lack of fetal movements, and a cystic mass on the back of the head may be sufficient to establish an intrauterine diagnosis. The above findings are common in all three types of lethal MPS, which makes the decision for pregnancy termination easier. In conclusion, lethal MPS is a disorder that can be diagnosed in the second trimester using ultrasound studies, especially in women who are at risk for this condition.

REFERENCES Chen, H., Chang, C.H., Misra, R.P., Peters, H.A., Grijalva, N.S., Opitz, J.M. (1980).

Multiple pterygium syndrome, Am. J. Med. Genet., 7,91-102. Chen, H., Immken, L., Blumberg, B., Lachman, R., Yang, S., Rimoin, D., Rightmire, D.,

Bachman, R., Eteson, D., Stewart, F. (1982). Lethal form of multiple pteryghn system. A prenatally diagnosable entity. Program and Abstracts of the 1982 Birth Defects Con- ference, The University of Alabama in Birmingham and the March of Dimes Birth Defects Foundation, 94.

Chen, H., Immken, L., Lachman, R., Yang, S., Rimoni, D.L., Rightmire, D., Eteson, D., Stewart, F., Beemar, F.A., Opitz, J.M., Gilbert, E.F., Langer, L.O., Shapiro, L.R., Duncan, P.A. (1984). Syndrome of multiple pterygium, Am. J. Med. Genet., 17,809-826.

Elias, S., Boelen, L., Simpson, J.L. (1978). Syndromes of camptodactyly, multiple ankylosis, facial anomalies, and pulmonary hypoplasia, BD:OAS, 14(B), 243-25 1.

Escobar, V., Bixler, D., Gleiser, S., Weaver, D.D., Gibbs, T. (1978). Multiple pterygium syndrome, Am. J. Dis. Child., 132,609-61 1.

Gillin, M.E., Pryse-Davis, J. (1976). Case report pterygium syndrome, report of a family, Am. J. Med. Genet., 13,249-25 1.

Hall, J.G. (1984). Editorial comment: The lethal multiple pterygium syndromes, Am. J. Med. Genet., 17,803-807.

Hall, J.G., Reed, S.D., Rosenbaum, K.N., Gershanik, J., Chen, H., Wilson, K.M. (1982). Limb pterygium syndromes: a review and report of eleven patients, Am. J. Med. Genet., 12,377-407.

Isaacson, G., Jay, J.G., Mahoney, M. (1984). Briefclinical reports: lethal multiple pterygium syndrome in an 18-week fetus with hydrops, Am. J. Med. Genet., 17,835-839.

Van Regemorter, N., Wilkin, P., Englert, Y., El Khazen, N., Alexander, S., Rodesch, F., Milaire, J. (1984). Lethal multiple pterygium syndrome, Am. J. Med. Genet., 17,827-834.