Abstract
We report the case of a young boy with fine hair, mild nail dysplasia, blocked nasolacrimal ducts, absence of central incisors, bilateral oligodactyly of feet and anal stenosis. His father showed the same spectrum of anomalies with mild expression. He had mild nail dysplasia, blocked nasolacrimal ducts, inferior dental cysts with consequent premature tooth loss, frequent dental decays consequent to enamel abnormality and cutaneous syndactyly of the second and third right toe. The acro-dermato-ungual-lacrimal-tooth syndrome was suspected and molecular analysis of the P63 gene was performed, but no mutation was found. Although P63 gene analysis was negative, we think that both cases show clinical overlap with the acro-dermato-ungual-lacrimal-tooth syndrome and confirm the wide expression of this condition, even in the same family.
| Original language | English |
|---|---|
| Pages (from-to) | 239-241 |
| Number of pages | 3 |
| Journal | Clinical Dysmorphology |
| Volume | 15 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Oct 2006 |
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Keywords
- Acro-dermato-ungual-lacrimal-tooth syndrome
- Ectodermal dysplasia
- P63
ASJC Scopus subject areas
- Genetics(clinical)
- Pediatrics, Perinatology, and Child Health
- Anatomy
Cite this
Acro-dermato-ungual-lacrimal-tooth-like syndrome : Report of a family with variable expression. / Bedeschi, Maria Francesca; Escande, Fabienne; Bellini, Melissa; Natacci, Federica; Cavallari, Ugo; Lalatta, Faustina.
In: Clinical Dysmorphology, Vol. 15, No. 4, 10.2006, p. 239-241.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Acro-dermato-ungual-lacrimal-tooth-like syndrome
T2 - Report of a family with variable expression
AU - Bedeschi, Maria Francesca
AU - Escande, Fabienne
AU - Bellini, Melissa
AU - Natacci, Federica
AU - Cavallari, Ugo
AU - Lalatta, Faustina
PY - 2006/10
Y1 - 2006/10
N2 - We report the case of a young boy with fine hair, mild nail dysplasia, blocked nasolacrimal ducts, absence of central incisors, bilateral oligodactyly of feet and anal stenosis. His father showed the same spectrum of anomalies with mild expression. He had mild nail dysplasia, blocked nasolacrimal ducts, inferior dental cysts with consequent premature tooth loss, frequent dental decays consequent to enamel abnormality and cutaneous syndactyly of the second and third right toe. The acro-dermato-ungual-lacrimal-tooth syndrome was suspected and molecular analysis of the P63 gene was performed, but no mutation was found. Although P63 gene analysis was negative, we think that both cases show clinical overlap with the acro-dermato-ungual-lacrimal-tooth syndrome and confirm the wide expression of this condition, even in the same family.
AB - We report the case of a young boy with fine hair, mild nail dysplasia, blocked nasolacrimal ducts, absence of central incisors, bilateral oligodactyly of feet and anal stenosis. His father showed the same spectrum of anomalies with mild expression. He had mild nail dysplasia, blocked nasolacrimal ducts, inferior dental cysts with consequent premature tooth loss, frequent dental decays consequent to enamel abnormality and cutaneous syndactyly of the second and third right toe. The acro-dermato-ungual-lacrimal-tooth syndrome was suspected and molecular analysis of the P63 gene was performed, but no mutation was found. Although P63 gene analysis was negative, we think that both cases show clinical overlap with the acro-dermato-ungual-lacrimal-tooth syndrome and confirm the wide expression of this condition, even in the same family.
KW - Acro-dermato-ungual-lacrimal-tooth syndrome
KW - Ectodermal dysplasia
KW - P63
UR - http://www.scopus.com/inward/record.url?scp=33748552634&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33748552634&partnerID=8YFLogxK
U2 - 10.1097/01.mcd.0000220618.01144.6d
DO - 10.1097/01.mcd.0000220618.01144.6d
M3 - Article
C2 - 16957482
AN - SCOPUS:33748552634
VL - 15
SP - 239
EP - 241
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
SN - 0962-8827
IS - 4
ER -