2008 Barcelona - European Society of Human Genetics

Clinical genetics
lies whose parents are first cousins. Their second child died 4 days
after birth with severe limb defects and imperforate anus . Our patient
may represent clinical variability of the acro-cardio-facial syndrome . If
our case has the ACF syndrome, it would be the mildest form of this
condition .
P01.284
Unusual pattern of inheritance and orodental changes in the
Ellis-van creveld syndrome
M. I. Mostafa, S. A. Temtamy, M. A. El-Gammal, I. M. Mazen;
National Research Centre, Cairo, Egypt.
Ellis-van Creveld (EVC) syndrome (chondroectodermal dysplasia,
mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive
skeletal dysplasia characterized by short limbs, short ribs, postaxial
polydactyly and dysplastic nails and teeth . Oral manifestations tend to
be pathognomonic such as multiple broad labial frenula and congenital
missing teeth .
In this study we report 3 Egyptian families with six cases of EVC syndrome
.
An unusual pattern of inheritance with father to son or to daughter
transmission was observed in 2 consanguineous families thus demonstrating
quasidominant inheritance, probably for the first time in the
literature . A new consistent orodental anomaly found in all our cases
was bifid tip of the tongue. We emphasize study of orodental anomalies
in future cases for accurate diagnosis of Ellis-van Creveld syndrome
and its probable differential diagnosis from Weyers Acrodental
dysostosis .
P01.285
Encephalocraniocutaneous lipomatosis: A propos of a boy with
an unusual pattern of genital anomalies
A. P. Marques-de-Faria, G. Guerra-Júnior, S. G. Moraes, A. Maciel-Guerra;
State University of Campinas (UNICAMP) School of Medicine, Campinas,
Brazil.
Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic, congenital
neurocutaneous disorder, characterized by cerebral, ocular
and cutaneous abnormalies, including asymmetrical cerebral atrophy,
intracranial and spinal lipomas, mental retardation and/or epilepsy,
epibulbar dermoids or choristomas, alopecia, facial skin-tags, craniofacial
lipomas and a peculiar hairless fatty tissue nevus of the scalp,
designated as psiloliparus . The pathogenesis remains undetermined;
one hypothesis is a lethal autosomal dominant mutation only surviving
in a mosaic state . There is a considerable overlap with other neuroectodermal
disorders, as oculocutaneous syndrome (OCCS), Goldenhar
syndrome, and epidermal nevus syndrome . Recently, some clinical
features of ECCL and OCCS were reviewed and diagnostic criteria
were established . Herein, we describe a male infant whose clinical
signs suggest ECCL . Besides the main features, he also had a compound
odontoma, already reported but not frequent in ECCL and in
similar conditions . However, the pattern of genital anomalies has not
been reported so far . It includes asymmetrical penoscrotal transposition,
ectopic left hypoplasic hemiscrotum, and a pedunculated perineal
mass, whose aspect suggested a rudimentar accessory scrotum; the
phallus had a normal length with an increase of subcutaneous tissue in
prepucial region . This phenotype is quite rare and has been described
in association with perineal lipoma or lipoblastoma, which probably
arose in the perineum and divided the moving labioscrotal swelling into
three parts, during early fetal life . The same mechanism is proposed
in present case, considering that in ECCL there are a few reports of
lipomas, lipomatous mass and/or skin-tags located outside the craniofacial
region, including in genital area .
P01.286
„stat rosa pristina nomine, nomina nuda tenemus“: a survey on
attitude of italian clinical geneticists towards eponyms
E. Di Maria 1,2 , R. Tenconi 3 ;
1 Dept. of Neuroscience, Ophthalmology and Genetics, University of Genova,
Genova, Italy, 2 Laboratory of Genetics, Galliera Hospital, Genova, Italy, 3 Clinical
Genetics, Department of Pediatrics, University of Padova, Padova, Italy.
An eponym is a person after whom a discovery, invention, etc ., is
named . Eponyms are widely used in all clinical disciplines . Recently, a
provocative editorial published in British Medical Journal argued that
their use should be abandoned . The London Dysmorphology Data-
base currently reports >5000 diseases: 44% of them are designated
by eponyms .
We wondered how eponyms are perceived among clinical geneticists
in Italy . By administering a questionnaire on the use of eponyms, we
wanted to explore also the attitude of clinical geneticists towards nomenclature
and its regulation . The home-made, Likert-type questionnaire
consisted of 10 items exploring the attitude towards eponyms
through the following domains: role of historical aspects, value in
learning, use in clinical practice, facilitation of scientific discussion,
convenience . Two additional items pertained to the need for rules in
nomenclature . Scores were modelled as discrete variables and analysed
by descriptive statistics .
We collected 102 (84%) fully filled-in questionnaires. The median value
of the total score modelling the attitude towards eponyms was close
to neutrality, with a trend in favour of eponyms . When the participants
were asked to state a radical position (keep or abolish), 73% answered
to prefer keeping use of eponyms. We found a marginally significant
correlation between attitude in favour of eponyms and both age and
years of practice . Regardless their position with respect to eponyms,
the vast majority stated that the use of nomenclatures should be ruled
by guidelines. Our findings provided a surprising impression of interest
in the subject and underscored the need for recommendations .
P01.287
molecular diagnosis of familial mediterranean fever in
Armenians
T. F. Sarkisian, H. S. Hajrapetyan, G. R. Shahsuvaryan, A. A. Beglaryan, A. R.
Egiazaryan;
Center of Medical Genetics, Yerevan, Armenia.
Familial Mediterranean Fever (FMF) is an inherited, recessively transmitted
inflammatory condition usually occurred in populations from
Mediterranean decent . The prevalence of heterozygous carriers of one
of the mutations of MEFV gene is as high as 1 in 5 healthy individuals
in Armenians .
Genetic testing of this rare Mendelian disorder (MIM no 249100) is efficient
for early diagnosis, especially for atypic cases . Certain mutations
have significant correlation with renal amyloidosis, the most severe
possible manifestation of FMF . Also genetic testing is very important
for colchicine therapy correction .
Twelve MEFV mutations are identified in more than 8000 FMF patients
(heterozygotes, homozygotes and compound heterozygotes) in comparison
with healthy individuals has revealed the most frequent mutations
and genotypes . Every week we have 35-50 new cases . We have
revealed that FMF is caused by presense of single mutation in 18 .6%
of heterozygote carriers .
Our results confirm that the MEFV gene analysis provides the objective
diagnostic criterion for FMF (characterisation of the two MEFV
mutated alleles in more than 90% of the patients) . Molecular testing
is also used to screen the MEFV gene for mutations in patients with
a clinical suspicion of FMF . We also demonstrated the unfavourable
prognostic value of the M694V homozygous genotype, and provided
the first molecular evidence for incomplete penetrance and pseudodominant
transmission of the disease . Overall, these data, which confirm
the involvement of the MEFV gene in the development of FMF,
should be essential in clinical practice, leading to new ways of managment
and treatment of FMF patients .
P01.288
midline Facial Defects with Hypertelorism: investigation of
neuropsychological aspects and 22q11.2 deletion by FisH
M. Simioni, S. D. A. Giffoni, É. L. Freitas, T. P. Vieira, I. E. Guimarães, S. M.
Ciasca, I. Lopes-Cendes, V. L. Gil-da-Silva-Lopes;
Faculdade de Ciências Médicas - UNICAMP, Campinas, Brazil.
Midline facial defects with hypertelorism (MFDH) are a group of rare
and heterogeneous condition involving anomalies of frontonasal process
. In some patients it is associated with structural and functional
anomalies of the central nervous system . These CNS abnormalities
have similarity with those found in patients with 22q11 .2 deletion syndromes
. In addition, there are some isolated reports of MFDH in which
22q11 .2 deletion were detected . Furthermore, even in the absence of
anatomical abnormalities detected by neuroimaging, functional disabilities
could be present in patients with MFDH, which would be better
investigated by neuropsychological assessment . Therefore, the main
0