Two female sibs are reported with a possibly new lethal malformation pattern, the major anomalies of which are: coarse face with small eyes and cloudy corneae, cleft soft palate, hypoplasia and absence of lobulation of both lungs, diaphragmatic defects, digitalisation of thumbs and distal limb defor
✦ LIBER ✦
A Female With Angelman Syndrome and Unusual Limb Deformities
✍ Scribed by Eve Õiglane-Shlik; Reet Rein; Vallo Tillmann; Tiina Talvik; Katrin Õunap
- Book ID
- 116824754
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 187 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0887-8994
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This paper reports a rare malformation syndrome which is observed in two sibs (brother and sister) of a family. It consists of nearly symmetric reductive defects of the limbs, flexon contractures of various joints, cleft lip and cleft palate, multiple minor abnormalities including capillary hemangio