European Human Genetics Conference, 2006, Amsterdam, Hollanda, 6 - 09 Mayıs 2006, cilt.14, sa.1, ss.156
The proposita, a 7 years old boy, was the second born to related
parents. His physical findings was included short stature, moderate
microcephaly, short broad terminal phalanges, broad toe and thumbs,
short-broad nails with inability to flex the knees. He had down slanting
palpebral fissures, thin lips, micro-retrognathia and long-smooth
philtrum. His trunk was narrow and he had pectus carinatum.
His X-rays findings revealed impressio digitalis of calvarium, end plate
irregularities of vertebral bodies and epiphyseal irregularities of knees.
Especially, terminal phalanges of feet and hands were very short.
Shortness of terminal phalanges and flexion deformity of knee were
major signs of the proposita. These findings were suggesting a new