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See detailDuane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?
Verloes, Alain; Misson, Jean-Paul ULg; Gillet, Philippe ULg et al

in Annales de Génétique (2003), 46(4), 449-52

We report on two sisters who show a similar pattern of anomalies consisting of bilateral Stilling-Turk-Duane retraction syndrome (type 3), non-progressive hypotonia with delayed motor milestones but ... [more ▼]

We report on two sisters who show a similar pattern of anomalies consisting of bilateral Stilling-Turk-Duane retraction syndrome (type 3), non-progressive hypotonia with delayed motor milestones but normal intelligence, severe, early onset scoliosis, and short stature. Muscular biopsy revealed numerous regenerating fibers, but no specific abnormalities among the non-regenerating fibers. This combination of anomalies has not been previously reported, and could represent a new autosomal recessive syndrome. The only differential diagnosis is Crisfield-Dretakis-Sharpe syndrome, a combination of lateral gaze palsy, ptosis, and scoliosis without hypotonia, recessively inherited. [less ▲]

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See detailEpisphalosomic Syndrome : A Mca Syndrome Ressembling Fanconi Anemia, with Increased Baseline Level of Chromosome Breaks but No Hypersensivity to Clastogens
Verloes, Alain ULg; JAMAR, Mauricette ULg; Dideberg, Vinciane ULg et al

in Annales de Génétique (2001), 44(2, Apr-Jun), 59-62

We describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia ... [more ▼]

We describe a child with facial dysmorphism (trigonocephaly, epicanthus, upturned nose, small ears), thumb hypoplasia, micropenis, jejunal atresia and moderate mental retardation with dysphasia. Cytogenetic workup revealed high spontaneous level of chromosomal aberrations (without specific pattern and no quadriradial figures) and borderline to absent hypersensitivity to mitomycin C, making a diagnosis of Fanconi anemia unlikely. The child described here shares similarities with a small number of previous reports. We suggest to refer to this entity as episphalosomic syndrome. Episphalosomic syndrome shows some clinical overlap with Fanconi anemia, but lacks its cytogenetic hallmark. The hematological complications of Fanconi anemia have not been reported in this entity. [less ▲]

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See detailBranchial Arch Anomalies in Trisomy 18
Verloes, Alain ULg; Seret, N.; Bernier, V. et al

in Annales de Génétique (1991), 34(1), 22-4

The authors report two newborns and one fetus with trisomy 18, who have severe anomalies of the first branchial arch: extreme microtia with imperforate external meatus in two cases, and hemifacial ... [more ▼]

The authors report two newborns and one fetus with trisomy 18, who have severe anomalies of the first branchial arch: extreme microtia with imperforate external meatus in two cases, and hemifacial microsomia in a third one. Those cases point to the huge phenotypic variability of the trisomy 18. [less ▲]

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See detailRoberts-Sc Phocomelia Syndrome with Exencephaly
Verloes, Alain ULg; Herens, Christian ULg; Van Maldergem, Lionel ULg et al

in Annales de Génétique (1989), 32(3), 169-70

We report a 18 weeks old fetus with the typical limb reduction anomalies of SC phocomelia syndrome, associated with exencephaly and unilateral anophthalmia, a feature previously reported in only 2 cases ... [more ▼]

We report a 18 weeks old fetus with the typical limb reduction anomalies of SC phocomelia syndrome, associated with exencephaly and unilateral anophthalmia, a feature previously reported in only 2 cases of severe Roberts syndrome. This observation brings another argument for lumping both diseases in a unique Roberts-SC phocomelia syndrome. Diagnosis was settled by the observation of premature centromeric splitting. [less ▲]

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See detailChromosome 22 Mosaic Monosomy (46,Xy/45,Xy,-22)
Verloes, Alain ULg; Herens, Christian ULg; Lambotte, C. et al

in Annales de Génétique (1987), 30(3), 178-9

A slightly dysmorphic and mentally defective child with mosaic monosomy 22 is reported. Chromosome 22 is absent in 10.5% of lymphocytes and 8.3% of fibroblasts. This is the second case report of that kind.

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