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We describe three male sib fetuses with isolated myocardial calcifications resulting in intrauterine fetal death (IUFD) as early as the second trimester. No evidence for an underlying mitochondrial cytopathy, dystrophinopathy or myopathy was found. There were no signs of inflammation or a...
A girl born with a left chest wall hamartoma, macroglossia, nevus flammeus of the middle forehead, and a small umbilical hernia developed left lower extremity hemihypertrophy by 1 year of age and is assumed to have Wiedemann‐Beckwith syndrome. Hamartoma of the bladder and a cardiac fibrous...
We report a boy, born to consanguineous patients, with agammaglobulinemia associated with multiple physical anomalies: mild intrauterine growth retardation, extreme microphthalmia (clinical anophthalmia), severe microcephaly, blepharophimosis, long face with temporal narrowing, scaphocephalic...
The isolation and analysis of nucleated fetal cells (NFCs) from maternal blood may represent a new approach to noninvasive prenatal diagnosis. Although promising, these techniques require highly accurate separation of NFCs from nucleated cells of maternal origin; the two major problems limiting...
Gerodermia osteodysplastica (GO) is a connective tissue disorder characterized by premature aging, wrinkled, and lax skin with reduced elasticity which is more marked on the dorsum of the hands and feet associated with hyperextensible joints and osteoporosis. The wrinkly skin syndrome (WSS) is...
We report on maternal first cousins with bilateral microtia, micrognathia, cleft palate and hematologic findings of Diamond‐Blackfan anemia (DBA). The similarity of findings shared between our cases and a female reported by Hasan and Inoue (1993) suggests that this is a distinctive syndrome,...
We report the results of detailed clinical and molecular‐cytogenetic studies in seven patients with ring chromosome 18. Classical cytogenetics and fluorescence in situ hybridization (FISH) analysis with the chromosome 18 painting probe identified five non‐mosaic and two complex mosaic...
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