Document Detail

Craniofrontonasal dysplasia in two male sibs.
MedLine Citation:
PMID:  8305967     Owner:  NLM     Status:  MEDLINE    
Craniofrontonasal dysplasia (CFND) was diagnosed in a male child who had bilateral coronal craniosynostosis, midline facial clefting with cleft lip and palate, a broad and high forehead, and hypertelorism. The parents were normal and there was no family history suggestive of CFND. A small recurrence risk was counselled and prenatal ultrasound was recommended in the next pregnancy. At 23 weeks, the ultrasound scan detected a number of dysmorphic features and the pregnancy was terminated. Autopsy of the aborted male foetus showed the following features: High arched palate, a sloping forehead, flattened nose and receding chin, multiple joint contractures, particularly of the mid phalangeal joints, elbows and ankles. This report highlights the occurrence of CFND in two male siblings born to normal parents, and therefore the need to perform prenatal ultrasound in a subsequent pregnancy, even if CFND is diagnosed in an isolated case.
U Natarajan; M Baraitser; K Nicolaides; C Gosden
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  2     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  1993 Oct 
Date Detail:
Created Date:  1994-03-17     Completed Date:  1994-03-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  360-4     Citation Subset:  IM    
Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
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MeSH Terms
Abnormalities, Multiple / genetics
Bone Diseases, Developmental / genetics
Facial Bones / abnormalities*
Fetus / abnormalities
Nose / abnormalities
Skull / abnormalities*

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