Journal of Ultrasound in Medicine, Vol 18, Issue 10 707-710, Copyright © 1999 by American Institute of Ultrasound in Medicine
Prenatal sonographic diagnosis of Aarskog syndrome
W. Sepulveda, V. Dezerega, E. Horvath and M. Aracena
Department of Obstetrics and Gynecology, Clinica Las Condes, Santiago, Chile.
In 1970, Aarskog described a rare X-linked developmental disorder
characterized by short stature in association with a variety of structural
anomalies involving mainly the face, distal extremities, and external
genitalia (faciodigitogenital syndrome). The major facial manifestations of
this syndrome include hypertelorism, broad forehead, broad nasal bridge,
short nose with anteverted nostrils, long philtrum, widow's peak hair
anomaly, and ocular and ear anomalies. Limb abnormalities consist of short
broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle
phalanges, proximal interphalangeal joint laxity with concomitant flexion
and restriction of movement of distal interphalangeal joints, and flat
broad feet with bulbous toes. Genital anomalies are characteristics and
include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected
patients have normal intelligence, but some authors have noted mild
neurodevelopmental delay in up to 30% of the cases. We describe a case of
Aarskog syndrome diagnosed prenatally by sonography at 28 weeks' gestation
in a high-risk pregnancy for this disorder.
