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...

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Veröffentlicht in:American journal of medical genetics 1994-02, Vol.49 (4), p.393-396
Hauptverfasser: Bamforth, J. S., Kaurah, P., Byrne, J., Ferreira, P.
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Sprache:eng
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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