Hypomandibular faciocranial dysostosis: report of an affected sib and follow-up.
Hypomandibular faciocranial dysostosis is a condition heretofore described only in a single case. We report the birth of an affected sister along with follow-up information on the initial surviving patient. While a primary error in neural crest development was postulated in this syndrome, subsequently discovered anatomical abnormalities suggest a more complex pathogenesis.
Schimke
R N
RN
Department of Pediatrics, Kansas University Medical School, Kansas City.
Claflin
K S
KS
Seguin
J H
JH
Bennett
T L
TL
Finley
B E
BE
Levitch
L M
LM
Newcomb
W M
WM
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D003394:Craniofacial Dysostosis; D003398:Craniosynostoses; D005260:Female; D005808:Genes, Recessive; D005881:Gingiva / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008334:Mandible / Q000002:abnormalities*; D009432:Neural Crest / Q000002:abnormalities; D013577:Syndrome; D014132:Trachea / Q000002:abnormalities