A new syndrome? A case report with short broad terminal phalanges

Söylemez M. A., Sayar C., Türköver B. B., Toksoy G., Yardımcı T., Giray A.

European Human Genetics Conference, 2006, Amsterdam, Hollanda, 6 - 09 Mayıs 2006, cilt.14, sa.1, ss.156

  • Yayın Türü: Bildiri / Özet Bildiri
  • Cilt numarası: 14
  • Basıldığı Şehir: Amsterdam
  • Basıldığı Ülke: Hollanda
  • Sayfa Sayıları: ss.156
  • İstanbul Üniversitesi Adresli: Evet

Özet

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

syndrome