THE SYNDROME
Clinical anophthalmia; unusual facies (sloping forehead, prominent nasal root and bridge, large pinnae, mild micrognathia); dextrocardia; vertebral fusion defects; supernumerary ribs; and normal growth and development in infancy.
KEY WORDS: consanguinity, multiple congenital anomalies, vertebral/ rib anomalies
CLINICAL REPORT
A male infant was born a t 42 weeks of gestation to a 23-year-old primigravida following an uncomplicated pregnancy. His mother may have been exposed briefly to varicella at 6 weeks of gestation; however, she had had that condition earlier in life and developed no signs of varicella during the remainder of her pregnancy. He was born via spontaneous vaginal delivery, vertex presentation; a large amount of clear amniotic fluid was noted at rupture of membranes. Apgar scores were 7 a t one minute and 9 a t 5 minutes. Birthweight was 3,560 g (slightly less than mean for gestational age), birth length was 52 cm (mean), and birth OFC was 34.5 cm (slightly < -1 SD). Lack of ocular globes was noted shortly after delivery. Physical examination (Fig. 1):
The infant was vigorous. He had long, thick, dark hair; mild hirsutism of the forehead; preauricular hair; and a markedly sloping forehead. The palpebral fissures were mildly downslanting and deep-set. He had a prominent nasal root and bridge; broad alae nasi; and short columella nasi. The palate was intact; the mandible was somewhat small. He had large pinnae (AD, 4.75 cm [>97th centile]; AS, 4.25 cm [97th centile]) with fleshy