Craniofacial syndromes.
The neonate with cranio-facial dysmorphism presents a difficult diagnostic problem as only a limited number of cranio-facial syndromes can be diagnosed with confidence in the neonatal period. This review outlines a systematic approach to this problem and discusses the genetic aspects and clinical features of the common cranio-facial syndromes that can be diagnosed in the neonatal period.
Suri
Mohnish
M
Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK. mohnishsuri@hotmail.com
D002875:Chromosomes / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D003952:Diagnostic Imaging / Q000379:methods; D005821:Genetic Techniques; D006801:Humans; D007231:Infant, Newborn; D008487:Medical History Taking; D010808:Physical Examination