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Holoprosencephaly

Inheritance patterns and prenatal diagnosis

Inheritance patterns
HPE has many different causes. In most instances it is only one feature of a multiple malformation or chromosomal anomaly syndrome (particularly trisomy 13, Patau syndrome).

When it is an isolated malformation or accompanied only by face malformation it may be caused by an abnormal dominant gene (several different dominant genes have now been identified, but more remain to be discovered). It has also occurred among the offspring of mothers with insulin-dependent diabetes mellitus or severe alcohol abuse.

Prenatal diagnosis
Prenatal detection of alobar HPE is possible by targeted ultrasound examination. The milder forms of HPE may not be evident by prenatal ultrasound examination.

View What are the symptoms? What are the symptoms?  |  Is there support? View Is there support?

Medical text written May 1998 by Dr M Barr Jr, University of Michigan, USA. Last reviewed March 2006 by Dr A Habel, Consultant Paediatrician, Great Ormond Street Hospital, London, UK and Dr M Lees, Consultant Geneticist, Institute of Child Health, London, UK.

 

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