Abstract
We describe a newborn female who presented at birth multiple hyperplastic oral frenula, bilobulated tongue with hamartoma, notched upper lip, hypoplasia of the alae nasi, clinodactily. These abnormalities in a newborn female led us to make a diagnosis of OFD1, an X-linked dominant syndrome. Molecular analysis showed the deletion of one base in exon 16 of the gene OFD1. Given the phenotypic variability and high percentage of "de novo" mutations, the presence of maternal mutations has to be studied in order to provide the parents with the appropriate genetic information.
| Original language | English |
|---|---|
| Pages (from-to) | 323-325 |
| Number of pages | 3 |
| Journal | Italian Journal of Pediatrics |
| Volume | 29 |
| Issue number | 5 |
| Publication status | Published - Oct 2003 |
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Keywords
- Abnormal frenulae
- Hamartoma
- Notched tongue
- X-linked dominant inheritance
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Neonatal multiple hyperplastic oral frenulae and bilobulated tongue. / Gerola, Orietta; Cerbo, R. M.; Franco, B.; Rondini, G.
In: Italian Journal of Pediatrics, Vol. 29, No. 5, 10.2003, p. 323-325.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Neonatal multiple hyperplastic oral frenulae and bilobulated tongue
AU - Gerola, Orietta
AU - Cerbo, R. M.
AU - Franco, B.
AU - Rondini, G.
PY - 2003/10
Y1 - 2003/10
N2 - We describe a newborn female who presented at birth multiple hyperplastic oral frenula, bilobulated tongue with hamartoma, notched upper lip, hypoplasia of the alae nasi, clinodactily. These abnormalities in a newborn female led us to make a diagnosis of OFD1, an X-linked dominant syndrome. Molecular analysis showed the deletion of one base in exon 16 of the gene OFD1. Given the phenotypic variability and high percentage of "de novo" mutations, the presence of maternal mutations has to be studied in order to provide the parents with the appropriate genetic information.
AB - We describe a newborn female who presented at birth multiple hyperplastic oral frenula, bilobulated tongue with hamartoma, notched upper lip, hypoplasia of the alae nasi, clinodactily. These abnormalities in a newborn female led us to make a diagnosis of OFD1, an X-linked dominant syndrome. Molecular analysis showed the deletion of one base in exon 16 of the gene OFD1. Given the phenotypic variability and high percentage of "de novo" mutations, the presence of maternal mutations has to be studied in order to provide the parents with the appropriate genetic information.
KW - Abnormal frenulae
KW - Hamartoma
KW - Notched tongue
KW - X-linked dominant inheritance
UR - http://www.scopus.com/inward/record.url?scp=0348046336&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0348046336&partnerID=8YFLogxK
M3 - Article
VL - 29
SP - 323
EP - 325
JO - Italian Journal of Pediatrics
JF - Italian Journal of Pediatrics
SN - 1720-8424
IS - 5
ER -