Document Detail

Familial association of camptodactyly, mental retardation, whistling face and Pierre Robin sequence.
MedLine Citation:
PMID:  10532172     Owner:  NLM     Status:  MEDLINE    
Two sibs are reported with severe developmental retardation combined with the clinical triad of camptodactyly, whistling face and Pierre Robin sequence as clinical signs of fetal hypokinesia. In spite of tracheotomy, the first child of the family died 10 hours after birth. A sister of this child was born 1 year later. During pregnancy prenatal diagnosis of hydrocephaly was made by ultrasonographic examination. MRI scan showed holoprosencephaly. At 15 months of age psychomotor development is severely impaired, birth and length are delayed.
C Stoll; F Benoit; M O Peter; B Gasser
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  8     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  1999 Oct 
Date Detail:
Created Date:  1999-11-16     Completed Date:  1999-11-16     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  247-51     Citation Subset:  IM    
Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.
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MeSH Terms
Contracture / congenital*
Fetus / physiopathology
Holoprosencephaly / diagnosis
Hydrocephalus / ultrasonography
Infant, Newborn
Magnetic Resonance Imaging
Mental Retardation*
Pierre Robin Syndrome*
Ultrasonography, Prenatal

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