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On lumping and splitting: A fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome

✍ Scribed by Muenke, Maximilian ;Ruchelli, Eduardo D. ;Rorke, Lucy B. ;McDonald-McGinn, Donna M. ;Orlow, Michael K. ;Isaacs, Ann ;Craparo, Frank J. ;Dunn, Linda K. ;Zackai, Elaine H.


Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
877 KB
Volume
41
Category
Article
ISSN
0148-7299

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Oral-facial-digital type I (OFDI) syndrome is a male-lethal X-linked dominant developmental disorder belonging to the heterogeneous group of oral-facial-digital syndromes (OFDS). OFDI is characterized by malformations of the face, oral cavity, and digits. Central nervous system (CNS) abnormalities a