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Orofaciodigital Syndromes

Known as: Syndromes, Orofaciodigital, orofacial digital syndrome, Dysplasia Linguofacialis 
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X… 
National Institutes of Health

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CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALYMohr SyndromeOROFACIODIGITAL SYNDROME VIOrofaciodigital Syndrome I
In BloodMicrobiologicalchemically inducednursing therapy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2002
Review
2002
Recent insights into kidney diseases associated with glomerular cysts
Glomerular cysts can exist in the context of several different kidney diseases. Advances in the last few years have begun to… 
2002
2002
Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1
Oral-facial-digital syndrome type 1 (OFD1, MIM 311200) was first described by Papillon-Leage and Psaume1 in 1954 and further… 
1999
1999
Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.
The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was… 
1998
1998
Neuropathologic findings in a case of OFDS type VI (Váradi syndrome).
Oral-facial-digital syndrome type VI (OFDS VI) or Váradi syndrome is a rare autosomal-recessive disorder distinguished from other… 
1993
1993
Oral‐facial‐digital syndrome with fibular aplasia: a new variant
Figuera LE, Rivas F, Cantú JM. Oral‐facial‐digital syndrome with fibular aplasia: a new variant. 
1991
1991
Renal cystic disease associated with orofaciodigital syndrome
Three families affected by the rare genetic disorder orofaciodigital syndrome, type I (OFD-1) were screened by computed… 
1988
1988
X‐linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males
We describe a family with clinical features of orofaciodigital (OFD) syndrome type 2 or Mohr syndrome, X‐linked recessive… 
1984
1984
[How are the Blaschko lines arranged on the scalp?].
Linear inherited or nevoid skin lesions mostly follow a characteristic pattern which was delineated by Blaschko in 1901. The… 
Review
1980
Review
1980
Lip pits, cleft lip and/or palate, and congenital heart disease.
Three individuals in whom lip pits and cleft lip and/or cleft palate were found in association with congenital heart disease are… 
1964
1964
POSTNATAL CRANIOFACIAL DEVELOPMENT IN CHILDREN WITH THE ORAL-FACIAL-DIGITAL SYNDROME.
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