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Biomedical subjects

A Verloes

Publications and source records attributed to A Verloes.

At least 91 records · Page 5Linked to original sources
PubMed1996

Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome?

Aase-Smith syndrome (ASS) is usually defined as a dominantly inherited combination of arthrogryposis, Dandy-Walker malformation and cleft palate. We describe a sporadic case of foetal akinesia with abnormal fossa posterior, fitting the diagnosis of ASS, and discuss the nosology of this entity among syndromes with distal arthrogryposis. ASS shows a "hybrid" phenotype: adults with mild ASS could be classified as distal arthrogryposis, whereas severely affected newborns overlap with the Marden-Walker phenotype, which is recessively inherited. The specificity of the disorder comes from the coexistence of both forms in the same pedigree, so that ASS appears impossible to diagnose with certitude in sporadic cases. We suggest that the severe expression of ASS is only the extreme but aspecific expression of a dominantly inherited form of distal arthrogryposis. Implications for genetic counselling in distal arthrogryposis are outlined.

Abnormalities, Multiple↗
PubMed1996

A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.

We report two patients, born of consanguineous parents, affected by a disorder resulting in mild growth retardation. Hallmarks are amelogenesis imperfecta (absence of the enamel cap) associated with brachyolmia-like anomalies: platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Inheritance appears to be autosomal recessive.

Abnormalities, Multiple↗
PubMed1996

Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.

We report two families in which neonatal haemochromatosis was observed in half sibs. In the first family, two successive girls were born of different fathers. In the second family, an affected brother and sister were followed by an affected half brother born after donor insemination. These observations, as well as a previous abstract describing two affected half sisters, revive the debate over the inheritance of neonatal haemochromatosis. Incomplete penetrance or gonadal mosaicism for a dominant disorder, a maternal "environmental factor", or mitochondrial defect may be more suitable explanations than autosomal recessive inheritance in this condition. Alternative modes of fertilisation, such as donor insemination or in vitro fertilisation with donor eggs, should be considered with caution.

Fatal Outcome↗
PubMed1996

Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome.

We report a boy who shows a severe microcephaly, with mild mental retardation and hypotonia, and a dysmorphic facies: (flat profile, arched eyebrows, mild ptosis, short nose with raised basis, large tip and anteverted nares, long, smooth philtrum, narrow mouth with down turned corners, very large, backward tilted ears, with a prominent lobule, retrognathism and very small and widely spaced, although normally shaped teeth. Vesicoureteral reflux was present. The mother showed similar aspect, large ears, and a grinning smile. This appear to represent an undescribed phenotype which share some resemblance to mild Cornelia de Lange and Kabuki syndromes.

Adult↗
PubMed1996

Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases.

The authors present two patients with Delleman syndrome and one in with possible ECCL. Two boys with Delleman syndrome showed characteristic dysmorphic features with cerebral, ocular and skin malformations. The ocular anomalies consisted of eyelid coloboma, microphthalmia, iris coloboma and epibulbar lypodermoids. A third boy with possible ECCL syndrome had limbal lypodermoids, ectopia pupillae and aberrant iris tissue in the right eye. He showed an ipsilateral focal dermal hypoplastic defect within an area of alopecia of the scalp.

Abnormalities, Multiple↗
PubMed1995

Opitz GBBB syndrome: chromosomal evidence of an X-linked form.

BBB syndrome and G syndrome were originally reported as distinct X-linked disorders. Clinical studies indicated that BBB and G syndromes were likely to represent variant expression of the same disorder, now referred to as "Opitz" GBBB syndrome. Several occurrences of male-to-male transmission in both syndromes led to the hypothesis that GBBB syndrome was a single autosomal dominant, sex influenced disorder, now tentatively mapped to 5p12-13. We report on a large pedigree in which GBBB syndrome appears to cosegregate with a pericentric inversion of the X chromosome inv(X)(p22.3q26). It indicates the possible existence of a true X-linked form of GBBB syndrome, which does not appear phenotypically different from its autosomal counterpart. The gene could map in the vicinity of the breakpoints, in Xp or Xq. The existence of two genes affecting a common pathogenetic pathway could explain the gender-dependent expressivity of GBBB phenotype.

Abnormalities, Multiple↗
PubMed1995

Numerical syndromology: a mathematical approach to the nosology of complex phenotypes.

Numerical taxonomy is defined by Sneath and Sokal as the grouping of taxonomic units on the basis of their character states by numerical methods of multivariate data analysis, and syndromology as the study of multiple congenital anomaly (MCA) syndromes and of their nosology. We present here an application of those methods to the analysis of overlapping syndromes. The main advantage of numerical taxonomy is that it allows simultaneous objective and unweighted analysis of multiple traits, giving the possibility to test mathematically the clinical hypotheses about the heterogeneity between closely resembling syndromes and uncovering objective patterns of anomalies, to be compared with the subjective pattern recognition process which characterizes most of the diagnostic approach in syndromology. In this paper, we explored 5 syndromes whose most severe expression belongs to the cerebroacrovisceral early lethality (CAVE) phenotype: hydrolethalus, severe Smith-Lemli-Opitz, orofaciodigital type VI (Varadi-Papp), holoprosencephaly-polydactyly, and Pallister-Hall syndromes. Fifty-five published cases, including many overlapping cases, were submitted to principal factor analysis followed by hierarchical clustering and graphical scaling. Results show that the 5 syndromes clearly constitute independent phenotypic entities, that some of the original diagnoses have to be reconsidered, and that many of the overlapping cases may be unambiguously set in one category. Hypothalamic hamartoblastoma appears to be a nonspecific dysplasia occurring in any of the 5 disorders.

Abnormalities, Multiple↗
PubMed1995

Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis.

We report on a father and 2 children (a living 4-year-old girl and an aborted 18-week-old fetus) with a dominantly inherited form of mesomelic shortness of stature with severe ankle, knee, and elbow involvement. Skeletal abnormalities included brachymetacarpy and brachymetatarsy of the 3rd to 5th rays, synostoses in these bones, synostoses of metacarpals and metatarsals II to V with the corresponding carpal/tarsal bones, partial fusion in the proximal row of carpal bones, and mild vertebral anomalies. Father and daughter also had downslanted palpebral fissures, beaked nose, hypertelorism, ptosis, microretrognathia, and transverse agenesis of the soft palate. Abnormally short umbilical cord with unusually long skin coverage was present. Mesomelic shortness worsens with time, with progressive curvature of the forearm. This condition appears to represent a previously undescribed MCA/dysostosis syndrome.

Abnormalities, Multiple↗
PubMed1995

A prenatal trisomy 21 screening program using alpha-fetoprotein, human chorionic gonadotropin, and free estriol assays on maternal dried blood.

OBJECTIVE: The feasibility of large-scale Down syndrome maternal screening with dried blood samples and nonradioactive methods was examined. STUDY DESIGN: A prospective observation study was performed on a nonselected population of 11,241 pregnant women sampled between January 1991 and September 1992, between 14 and 24 weeks' gestation (ultrasonographic scanning available for 91.6%), through a multicenter collaborative network. Enzyme-linked immunosorbent assays for alpha-fetoprotein, human chorionic gonadotropin, and free estriol were performed on dried blood samples. Risk determination was made with an in-house software implementing the multivariate gaussian log likelihood method. RESULTS: A total of 10,450 samples were eligible for the study. Mean age at term was 27.9 years. A total of 6.84% of the patients were > or = 35 years old with a prior risk of trisomy 21 > 1:350. The general positive rate of our sample was 8.15%. After calculation 31.7% with prior risk > 1:350 were still in the high-risk group; 6.36% of the low-risk group were found to be at high risk for Down syndrome. Fifteen trisomic pregnancies were observed, of which 11 had a calculated risk higher than the selected cutoff value (1:350). The overall detection rate was 73%, specificity was 92%, and positive predictive power was 1.2%. CONCLUSION: Our pilot study has shown performances within the range of conventional serum screening programs. Dried blood assays are a handy alternative to serum assays. Blot paper cards represent a simple method of sampling, well fitted for large population screening. Combined with nonradioactive methods, this method appears to be both low cost and effective. The current work apparently is the first large-scale Down screening program performed with dried blood.

Adult↗
PubMed1995

Cytogenetic study of bovine oocytes matured in vitro.

Described in the present paper is a cytogenetic study of bovine oocytes matured in vitro. The cumulus-oocyte complexes (COC), punctured from ovaries recovered in a local slaughterhouse, were classified into 3 groups according to follicular diameter 1 to 4mm, 5 to 8mm and 9 to 13 mm. Metaphases available for observation were classified as metaphase I, haploid and diploid metaphase II. High levels of haploid metaphases II (90.6, 86.9 and 94.4 %) among the 3 groups of follicular sizes indicated successful meiotic resumption during in vitro maturation and suggested that cytoplasmic maturation may be responsible for low developmental rate after IVM, IVF and in vitro development (IVD).

Journal Article↗
PubMed1995

Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees.

PURPOSE: Familial clustering of abdominal aortic aneurysm was first noticed in 1977. METHODS: Through questionnaire and phone inquiry, familial data on 324 probands with abdominal aortic aneurysms allowed the establishment of 313 multigenerational pedigrees including 39 with multiple affected patients. RESULTS: There were 276 sporadic cases (264 men, 12 women); 81 cases belonged to multiplex pedigrees (76 men; 5 women). We compared familial and sporadic male cases; the ages at diagnosis were 64.1 +/- 7.9 years and 66.0 +/- 7.3 years (p < 0.05), respectively, the ages at rupture were 65.4 +/- 6.6 years and 75.2 +/- 8.6 years (p < 0.001), and the rupture rate was 32.4% and 8.7% (p < 0.001). Survival curves were computed. Relative risk for male siblings of a male patient was 18. We performed a segregation analysis with the mixed model, the most likely explanation for occurrence of abdominal aortic aneurysm in our families was a single gene effect showing dominant inheritance. The frequency of the morbid allele was 1:250, and its age-related penetrance was not higher than 0.4. CONCLUSION: This analysis indicates the preeminence of genetic factors on multifactorial/environmental effects of the pathogenesis of abdominal aortic aneurysm.

Adult↗
PubMed1995

Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall.

We report on a child who died in the neonatal period. Major external anomalies included foetal overgrowth, macroglossia, and ambiguous genitalia (micropenis and perineoscrotal hypospadias with cryptorchidism). Necropsy showed a large right diaphragmatic hernia, visceromegaly, multicystic kidney dysplasia, Langerhans islet hyperplasia, nephroblastomatosis, multiple adrenal adenomas, and dysplastic testicles. The child illustrates the difficulties of the differential diagnosis of overgrowth syndromes in the neonatal period, and the phenotypic overlap of Beckwith-Wiedemann, Denys-Drash, Simpson-Golabi-Behmel, Perlman and possibly Meacham-Winn syndromes. Simpson-Golabi-Behmel syndrome was felt to be the most likely diagnosis. If this opinion is correct, genital ambiguity, hydramnios and nephroblastomatosis should be added to the clinical spectrum of Simpson-Golabi-Behmel syndrome. Differential diagnosis between the above-mentioned syndromes is of major importance for accurate genetic counseling, considering the differences in recurrence risk. The present case underlines the need for long-term survey of patients suspected of having Simpson-Golabi-Behmel syndrome, who could be at risk for embryonic tumours.

Abnormalities, Multiple↗
PubMed1995

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

We report two unrelated, long surviving patients (2 and 17 years) with syndromal hypothalamic hamartoblastoma. Both showed mild facial dysmorphism (downward slanted palpebral fissures, ptosis, microretrognathia), cleft epiglottis, and developmental delay. The younger child had stenosis of the pulmonary arteries, complex urogenital malformations, and anal atresia. In the oldest patient, the hamartoma caused precocious puberty of the central type, combined with complete hGH deficiency. Both patients showed bony anomalies of the extremities: variable proximal synostosis between central (2nd to 4th) metacarpals or intercalary polydactyly with generalised brachydactyly, severe brachytelephalangism, syndactyly, and nail hypoplasia. Together with the absence of anomalies of cholesterol metabolism, a combination of oral frenula, laryngeal malformations, digestive abnormalities, intercalary polysyndactyly, generalised brachytelephalangism, and nail hypoplasia should allow the delineation of Pallister-Hall syndrome, even when a CNS tumour is absent. The radiological abnormalities are helpful in differentiating Pallister-Hall syndrome from the other syndromes in which hypothalamic hamartoblastoma is observed. This is of major importance for genetic counselling, since Pallister-Hall syndrome may be a dominantly inherited disorder, thus contrasting with most of the other disorders with the CAVE phenotype, which are recessively inherited.

Abnormalities, Multiple↗
PubMed1995

Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation.

We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. This child shows radiological and clinical features of SPONASTRIME dysplasia. Only three sibships with this disorder have been reported. In two families, affected patients were of normal intelligence. In the third one, as well as our case, the dysplasia was complicated by severe mental retardation of unknown origin. The severity of the retardation in our case and a previous report, and some difference in the gestalt and radiological aspects, suggest that SPONASTRIME dysplasia is a heterogeneous disorder. We provisionally propose to split SPONASTRIME dysplasia in two phenotypically distinct subgroups, and to delineate here a 'new' variant with microcephaly and severe mental impairment.

Bone Diseases, Developmental↗
PubMed1995

Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and müllerian regression: further delineation of a new syndrome?

A 24-week-old fetus is described here with holoprosencephaly sequence (arhinencephaly and agenesis of the corpus callosum) associated with brain and meningeal dysplasia, microphthalmia with an ectopic pigmentary layer, hypothalamic hamartoblastoma, preaxial asymmetric limb reduction, lung hypoplasia, gastric hypoplasia, Müllerian regression, intestinal malrotation, asplenia, and normal chromosomes. The differential diagnosis includes the Cerebroacrovisceral-Early lethality (CAVE) phenotype, and the Pallister-Hall syndrome, but the anomalies best fit the severe form of microgastria-limb reduction syndrome. Together with a previous case reported by Meinecke, the pattern of anomalies appears to represent a combination of defects, related to but distinct from the microgastria-limb reduction syndrome.

Abnormalities, Multiple↗
PubMed1995

Phenotypic variability in van der Woude syndrome.

The association of lower lip pits with cleft lip and/or palate defines the van der Woude syndrome (VWS). VWS has an autosomal dominant mode of inheritance wiht a high penetrance and a variable expression. A gene involved in the origin of VWS is linked to loci on chromosome 1q32-q41. The gene might be involved in the programmed cell death of neural crest derived cells. Other malformations have been associated with the syndrome (dental defects, syngnathia, limb abnormalities, popliteal webs...). We report 4 cases with VWS demonstrating the wide clinical variability. One case shows brain abnormalities that might be part of the clinical spectrum of VWS.

Abnormalities, Multiple↗