TY  - JOUR
T1  - ANkylosis, facial anomalies, and pulmonary hypoplasia syndrome
AU  - SAY B, BARBER ND, LEICHTMAN LG
Y1  - 1979/11/01
N1  - 10.1001/archpedi.1979.02130110104024
JO  - American Journal of Diseases of Children
SP  - 1196
EP  - 1197
VL  - 133
IS  - 11
N2  - 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
SN  - 0002-922X
M3  - doi: 10.1001/archpedi.1979.02130110104024
UR  - http://dx.doi.org/10.1001/archpedi.1979.02130110104024
ER  -