1,721,154 research outputs found
Reply to the letter to the editor by Szudek et al.Growth charts for young children with neurofibromatosis 1 (NF1)
No full textThe study from Szudek and colleagues provides further
data on the growth in children with neurofibromatosis
type 1 (NF1). Their sample is lightly biased as
they underline that the patients included in the FDB
are likely to be more severely affected than NF1 patients
in general.The data provided by the International
Database complete our growth charts, which is a useful
tool to NF1 clinics
Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy
No full textHow wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case.
No full textA boy presenting with an incomplete form of the acrocallosal syndrome is described. The syndrome shows clinical variability and it is stressed that none of the components is constant and facial dysmorphism is not always characteristic
Re: "parity and the risk of Down's syndrome".
No full textRE: “PARITY Doria-Rose e At aNl.D (1 T) HreEce RnItlSyK e xOaFm DinOedW pNar’iSty S aYsN aD riRskO fMacEto”r
for Down’s syndrome and concluded that their data support an
association between parity and Down’s syndrome at any age.
However, as Chan (2) pointed out in the invited commentary
that accompanied this Journal article, the Doria-Rose et al.
paper suffers from some limitations, such as ascertainment of
Down’s syndrome births and lack of data on prenatal diagnosis.Our data confirm a higher risk of a Down’s syndrome
child limited to only those women with a parity of more than
four. However, because this effect is evident for women only
35 years of age or older, its practical impact is null because
these women are usually offered prenatal diagnosis in any
case. However, understanding the mechanisms involved, if
this association is true, is very intriguing and could stimulate
scientific studies allowing better knowledge of the nondisjunction
mechanisms
Further investigations when abdominal wall defects are diagnosed in utero.
No full textDr Bore (Aug 20, p 458) has raised some point concerning
the interpretation of the nuclear magnetic resonance (NMR) spectra of the rhabdomyosarcoma which we had no space to discuss in our letter (June 25, p 435) He is right in saying that the pulse angle induced by a surface coli varies at different positions in the sample: this is well known and is discussed on pages 100-02 in the first reference in our letter. We found from experiments using various pulse durations that a 25 /ms pulse gave maximum signal from phosphorus nuclei close to the 4 cm coil. In a conventional NMR instrument this is termed a 90 ° pulse. For a surface coil this would be accurate only near the plane of the coil, so one could argue that we should have given only the pulse duration and not the flip angle, but it is surely better to give this important parameter in some way than,
as in Taylor and colleagues' paper to leave it out. On one occasion a 50 ms pulse was used and the spectrum obtained from deeper tissue showed a large increase in phosphocreatine, leading us to believe that muscle was being detected.
We considered the possibility that the change in the
phosphocreatine peak at the second NMR examination, was due to a diminution of the signal from the interosseous muscles (or other tissues) but thought it unlikely
Lethal multiple pterygium syndrome. importance of foetal physical examination
No full textLethal multiple pterygium syndrome (LMPS) is an
autosomal recessive disorder characterized by fetal hy
pokinesia wit]h consequent j oint contractures , pterygia
and intrauterine death . Retronuchal cystic hygroma
and hydrops are frequent as sociated findings [De Die
Smulders et al . , 1 9 90] . The pathogenesis of LMPS is
still unknown . An abnormal fragile collagen constitu
tion [Hartwig et al . , 1 989] and, more recently, a pri
mary aplasia of the developing muscle fibers [Moerman
et al . , 1 990 ] have been proposed .
We report on a case of LMPS in a 22 -week-old fetus
of healthy, unrelated parents with a history of fetal
death in 2 of 3 former pregnancie s and one normal
6-year-old son
Family with branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies. A new autosomal recessive condition: branchio-oto-costal syndrome?
No full textWe report on a family in which 3 sibs were affected with conductive deafness, bilateral preauricular and commissural lip pits, monolateral branchial fistula, and rib anomalies. On the basis of parental consanguinity, lack of clinical variability and affected subjects of both sexes, this condition seems to be inherited as an autosomal recessive trait. We suggest that these findings comprise a new autosomal recessive entity of branchial, auricular and costal anomalies, for which we suggest the acronym BOC (branchio-oto-costal) syndrome
Autosomal dominant microcephaly.
No full textHaslam in his reply to a letter presenting a new family with autosomal dominant microcephaly, affirms that the number of patients with this anomaly is increasing and suggests caution in
making the diagnosis. The autosomal dominant chorioretinal dysplasia - microcephaly-mental retardation syndrome, which has
variability of expression, must also be considered in the differential diagnosis
Chorioretinal coloboma and Joubert syndrome. Replyto the Editor.
No full textThe table presented by Lindhout a n d Barthis obtained from an incomplete updating of the literature; recently eight more families with one or more a ffected members we re published. In addition , the denominator to be used to study the: clinical features is the number of patients in whom the findings reported, whereas for the analysis of the parental consanguinity and of the sibs affected the number of the families studied has to be considered
Theoretical recurrence risks for cleft lip derived from a population of consecutive newborns.
No full textTheoretical recurrence risks for cleft lip with or without cleft palate (CL(P)) were calculated from heritability estimates derived from a population of 203 newborns with CL(P) in a total of 220,927 consecutive births in north-east Italy. Birth prevalence of CL(P) and the frequency of CL(P) in relatives of probands were estimated after exclusion of cases with CL(P) resulting from a known cause or pathogenesis. The method allowed estimation of the theoretical recurrence risk for any family by considering the total number of affected and unaffected first, second, and third degree relatives. The lower value of the theoretical risk compared to the empirical risk, obtained from retrospective data of selected families, was the result of methodological differences
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