3+ 4/2002 - Společnost pro pojivové tkáně

patients we were able carry out FISH analysis
and detected 4 complete gene deletions
(4/150). At last seven mutations (7/12)
could be shown to be truly functional by
comparing with the genotype and phenotype
of the parents. Consequently SHOX
mutations have been detected in more than
2 % of children with idiopathic short
stature.The spectrum of SHOX mutations is
biased with the vast majority leading to
complete gene deletions. Children with
SHOX mutations have been shown in retrospect
to often derive from families where
older affected family members show mild
skeletal features reminiscent of the Turner
skeletal features. Short patients with a normal
karyotype and the presence of any of
the Turner characteristic dysmorphic skeletal
features. Short patiens with a normal
karyotype and the presence of any of the
Turner characteristic dysmorphic skeletal
features such as high arched palate, short
neck, abnormal articular development,
cubitus valgus, genu valgum, short 4th
metacarpals and Madelung deformity or
with frequent otitis media are therefore
likely candidates for a SHOX gene disorder.
SELECTED ABSTRACT FROM THE SEC-
TION CLINICAL GENETICS AND DYS-
MORPHOLOGY
POLAND – MOEBIUS SYNDROME
M. Kuklík, Praha
The author summmarizes hitherto
experience with the clinical and genetic
characteristics of Polands and Moebius syndrome.
Poland – Moebius syndrome is an
overlapping disruption spectrum of inborn
defects affecting the face and extremities.
Five selected case-records with this disease
and the sequence and of the Poland – Moebius
are presented. For establishment of
a more accurate symptomatology, and irreplaceable
is held by anthropometric examination,
for objectifying the assymetry of the
chest the so called cyrtogram., the chest
circumference recorded by means of
a wire,is valuable. From the aspect of genetic
counselling preconception care is always
provided to mothers from families with
reproduction intentions, as well as ultrasonographic
examination of fetus in area of
assumed acral symptomatology (signaling
phenotype). In two families ultrasonography
was used for prenatal diagnosis. Invasive
prenatal diagnosis by amniocentesis
was employed in a family with Moebius
syndrome. In these families dermatoglyphs
have certain common characteristics, such
a tendency towards simple patterns. In the
wider family of one of our patients we
detected in a cousin Parkes – Weber – Klippel
– Trenaunays syndrome, which may
indicate common vascular predisponing
factors.
OROFACIAL FINDINGS IN CHROMO-
SOMAL BREAKAGE DISEASES
J. Handzel, M. Kuklík, Praha
Chromosomal brekages are caused by
inborn insufficiency of enzymatic systems
reparing mutations of chromosomal DNA.
These diseases represent a serious precancerous
state and in patients (and also in
carriers) of these genetically determined
diseases there is a ereater incidence of
oncological cases. Following immunodeficiences
are associated with chromosomal
instability: ataxia teleangiectatica, Bloom
syndrome, xeroderma pigmentosum, incontinentia
pigmenti, Nijmegen breakage syndrome,
Jadasson – Lewandowski syndrome
POHYBOVÉ ÚSTROJÍ, ročník 9, 2002, č. 3+4 131