RT Journal
A1 SAY B, BARBER ND, LEICHTMAN LG
T1 ANkylosis, facial anomalies, and pulmonary hypoplasia syndrome
JF American Journal of Diseases of Children
JO American Journal of Diseases of Children
YR 1979
FD November 1
VO 133
IS 11
SP 1196
OP 1197
DO 10.1001/archpedi.1979.02130110104024
UL http://dx.doi.org/10.1001/archpedi.1979.02130110104024
AB This syndrome of multiple congenital malformations was first described in 1974 in two sisters by Pena and Shokeir.1 Two unrelated, similarly affected infants were described concurrently by Punnett et al.2 The possibility of autosomal recessive inheritance was suggested by the initial authors, whereas Punnett et al suspected environmental teratogens might be causally related. Since then, nine additional cases with two sibling pairs have been reported.3-8 Parental consanguinity existed in three families. An uncle-niece incestuous relationship4 was noted in one family. Only one of the reported cases survived the neonatal period.3 We describe a 7-month-old female infant with this syndrome who is the product of brother-sister incest.Report of a Case.—The proband was born to a 19-year-old mother and a 21-year-old father. The pregnancy was full term and uneventful. Birth weight was 3,180 g. The head circumference was 34 cm. The one-minute Apgar score was