A congenital X-linked syndrome lethal for males.
It is characterized by orofacial and digital defects associated with renal
Gorlin-Psaume Syndrome; Papillon-Léage Syndrome;
Digito-Orofacial Syndrome I; Orofaciodigital Syndrome I; Gorlin Syndrome I;
Genetic disorder that was first described by Psaume (1962) and
known worldwide because of Gorlin's works. First described in 1954 by E.
Papillon-Léage, a French dentist, and J. Psaume, also a French dentist. R. J. Gorlin,
an American oral pathologist and geneticist, made this condition internationally known.
Caused by mutations in the CXORF5 gene mapped on
Xp22.3-p22.2. One hypothesis is that the OFD1 protein may have widespread
influence on organogenesis and be essential for fetal survival.
Clinically evocated in females with characteristic
facies, multiple digits anomalies, and renal failure.
Features involve head and neck (microcephaly or
macrocephaly, micrognathia, frontal bossing, zygomatic hypoplasia, increased cranial
base angle, hypertelorism, telecanthus, choroid coloboma, hypoplastic alar
cartilage, broad nasal root, short upper lip, median cleft lip, cleft
palate, palatal grooves, alveolar notching, hyperplastic oral frenula,
lobulated/bifid tongue, tongue hamartomas, missing incisor teeth,
supernumerary teeth, periodontal diseases, malocclusion), digits (brachydactyly,
clinodactyly, syndactyly), skin (dry scalp, sparse hair, alopecia), central nervous system
(hydrocephaly, hydranencephaly, porencephaly, partial agenesis of the corpus
callosum, hamartoma of the hypothalamus, gray matter heterotopias,
conductive deafness), and kidneys (renal failure, polycystic kidneys). Mild mental
retardation and irritability occur in 50% of cases. Seizures, precocious
puberty, and short stature can be associated.
Evaluate tracheal intubation
(clinical, radiographs), neurological function (clinical, CT/MRI scans, EEG), and
renal function (clinical, echography, laboratory).
Tracheal intubation can be difficult and
may require adapted anesthetic management. Increase in intracranial pressure
is possible and makes spinal anesthesia not recommended.
Consider interaction between
antiepileptic treatment and anesthetic drugs. Intraoperative fluid regimen
and anesthetic drugs choice should consider renal function.
Ferrante MI, Giorgio G, Feather SA, et al: Identification of the gene for
oral-facial-digital type I syndrome. Am J Hum Genet
Papillon-Léage E, Psaume J: Une malformation héréditaire de la
muqueuse buccale, brides et freins anormaux: Généralities. Rev Stomatol