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Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD.
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PMID:Associated malformations in patients with limb reduction deficiencies. 2067 Jun 96

Congenital upper limb malformations represent complex pathologies because of their varied clinical presentations, imaging features, and etiologies. They can be divided into (1) failure of formation with transverse, intercalary, and longitudinal (preaxial, postaxial, and mesoaxial) deficiencies, (2) failure of differentiation with synostoses, carpal coalitions, syndactylies, and symphalangism, (3) duplication with ulnar dimelia and polydactylies, and (4) brachydactylies. Congenital Madelung's deformity, clinodactyly, camptodactyly, and Kirner's deformity are usually included in these malformations. Despite advances in molecular diagnosis, a good knowledge of clinical and imaging features as well as special consideration of other skeletal or nonskeletal abnormalities are essential to eventually diagnose an embryo fetopathy (maternal valproate treatment, constriction band syndrome), a genetic disorder (trisomy 21 or Down syndrome, Turner's syndrome, Holt-Oram syndrome), or a nongenetic syndrome (vertebral, anal, cardiac, tracheal, esophageal, renal, limb association, Poland's syndrome). Genetic counseling for a child presenting with a congenital upper limb malformation is of great value, both for the treating team and the parents, and imaging is often required. The latter is still largely supported by conventional radiography, both for diagnosis and functional prognosis, but ultrasound and magnetic resonance imaging will be great tools in the near future to better evaluate these conditions.
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PMID:Congenital malformations of the hand and forearm in children: what radiologists should know. 2264 30