Details

Autor(en) / Beteiligte

• Holmes, L B
• Redline, R W
• Brown, D L
• Williams, A J
• Collins, T

Titel

Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder

Ist Teil von

• Journal of medical genetics, 1995-11, Vol.32 (11), p.896-900

Ort / Verlag

London: BMJ Publishing Group Ltd

Erscheinungsjahr

1995

Quelle

Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals

Beschreibungen/Notizen

• Absence or hypoplasia of the tibia has been reported to occur as an isolated hereditary malformation as well as a feature of several autosomal recessive and autosomal dominant syndromes. We report three sibs with absence or hypoplasia of the tibia in association with other malformations whose parents are first cousins once removed. These infants appear to have a "new" autosomal recessive syndrome.