Pena-Shokeir type I syndrome: In utero sonographic appearance

✍ Scribed by Steven M. Genkins; Barbara S. Hertzberg; James D. Bowie; Osbert Blow

• Publisher: John Wiley and Sons
• Year: 1989
• Tongue: English
• Weight: 511 KB
• Volume: 17
• Category: Article
• ISSN: 0091-2751
• DOI: 10.1002/jcu.1870170113

✦ Synopsis

A new syndrome comprising multiple ankyloses of the extremities, camptodactyly, clubfeet, pulmonary hypoplasia, intrauterine growth retardation (IUGR), and facial anomalies including small mouth, low-set ears, hypertelorism, and depressed nasal tip was described in 1974 in two newborn sisters by Pena and Shokeir.' Polyhydramnios was noted in both cases. A companion article by Punnett et al. described similar findings in two unrelated newborn male infants.' Subsequent reports have documented at least 70 additional cases of what has come to be known as Pena-Shokeir Type I (P-S I) syndrome, and have cataloged the phenotypic and etiologic heterogeneity of the ~yndrome.~-'~ Antenatal sonographic findings rarely have been described for the P-S I s y n d r ~m e . * , ~, ~-' ' ~~~ We report a case in which some of the typical phenotypic characteristics of this disorder were identified by ultrasound examination at 18 weeks' menstrual age, while other features became apparent in subsequent serial studies. Pathogenesis, inheritance, prognosis, and sonographic differential diagnosis of P-S I syndrome are discussed.

CASE REPORT

A 21-year-old woman underwent obstetrical ultrasound examination for estimation of menstrual age. She had had one previous uncomplicated pregnancy. Sonography demonstrated a single live intrauterine pregnancy with an estimated menstrual age of 18 weeks based on mea-From the Departments of *Radiology tPathology, Duke University Medical Center, Durham, North Carolina. For reprints contact Steven M. Genkins, MD, Department of Radiology, Box 3808, Duke