Adams oliver syndrome: A family with extreme variability in clinical expression
We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic...
Gespeichert in:
Veröffentlicht in: | American journal of medical genetics 1994-02, Vol.49 (4), p.393-396 |
---|---|
Hauptverfasser: | , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
Zusammenfassung: | We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies. The clinical variation between the individuals is more pronounced than in previously reported families. © 1994 Wiley‐Liss, Inc. |
---|---|
ISSN: | 0148-7299 1096-8628 |
DOI: | 10.1002/ajmg.1320490408 |