Letter to the Editor: The XK-Aprosencephaly Syndrome
Recently we observed a malformed infant suspected of having the "XK-aprosencephaly" syndrome [Lurie et al, 1979; Adkins and Kaveggia, 19791 .
The patient, a stillborn male weighing 3,000 gm, was born at term from a cephalic presentation. His length was 50 cm. He was born to healthy and unrelated parents, a 26year-old mother and 25-year-old father. Both parents are clerks. They have a normal daughter born in 1974; the second pregnancy was medically aborted. The mother is Russian; her parents are unrelated. Her mother was born in Vologda, and her father in the Ural Mountains (about 3,000 km from Minsk). The patient's father was born to a Russian woman from Minsk and a Byelorussian man from the Grodno region. The family is not related to family K, our first family with "XK-aprosencephaly" syndrome.
26.5 cm), hypertrichosis of the forehead and cheeks, high forehead, flat nasal bridge, prominent philtrum, microstomia, retromicrognathia, high palate, unusually folded helices of the ears, and severely shortened palpebral fissures (0.6 cm only). The distance between the inner canthi was 2.3 cm, and between the outer canthi was 3.5 cm. The scrotum was severely hypoplastic; both thumbs were absent. X-ray films showed aplasia of the first metacarpal bones and thumbs, hypoplasia of the middle phalanges of the fifth fingers, and hypoplasia of the terminal phalanges of the index and fifth fingers. Dissection uncovered many muscular abnormalities of the upper limbs, absence of superficial and deep palmar arterial arches, and aplasia of the musculocutaneous nerve. Autopsy showed pulmonary atelectasis and abdominal testicles.