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11/293. recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family.

    This report concerns two sibs from a consanguineous Sudanese family with microgastria-limb reduction defect associated with hydrocephalus and agenesis of corpus callosum. We suggest that these cases together with other previously reported cases of central nervous system (CNS) anomalies associated with microgastria-limb reduction defect could represent an autosomal recessive syndrome differing from the classical microgastria-limb reduction defect by its severity, presence of CNS anomalies and its pattern of inheritance.
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ranking = 1
keywords = defect
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12/293. Tibial and fibular developmental fields defects.

    Malformations of the lower limbs are rare and heterogeneous anomalies. To explain the diversity and complexity of these abnormalities, authors introduced the concept of tibial and fibular developmental fields. Defects in these fields are responsible for different malformations, which have been described, to our knowledge, in only one report in the radiology literature. We present a case of a newborn with femoral bifurcation, absent fibulae and talar bones, ankle and foot malformations, and associated atrial septal defect. Our case is an example of defects in both fibular and tibial developmental fields.
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ranking = 0.85714285714286
keywords = defect
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13/293. Limb anomalies among offspring of women with a septate uterus: a report of three cases.

    A retrospective analysis of 467 births among 255 women with uterine malformations revealed that three (0.64%) newborns had limb reduction defects. Two women had a subseptate uterus and one a complete septate uterus with a longitudinal vaginal septum. One newborn had a bilateral split hand and split foot, one had absence of left hand and wrist. One infant born without left hand, wrist and one antebrachial bone associated with omphalocele and diaphragmatic hernia died during the neonatal period. An association between severe limb reduction defects and septate uterus is possible, although the mechanism is unclear. The findings indicate a need to evaluate the uterine cavity if a newborn has this invalid defect, and a detailed ultrasound examination of fetal limbs is warranted in a case of a pregnant septate uterus.
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ranking = 0.42857142857143
keywords = defect
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14/293. trisomy iop. A report of two cases due to a familial translocation rcp (10;21) (pII;pII).

    trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two sisters with multiple congenital defects. Their mother and two other sisters showed a balanced translocation 46,XX rcp(10;21)(p11;p11), so the affected girls were the result of a maternal adjacent-1 meiotic segregation with a karyotype 46,XX, der(21), rcp(10;21)(p11;p11)mat. The concordant features in the abnormal patients constitute the following syndrome: severe psychomotor retardation, congenital microsomatia, mild hydrocephalus with cranium-face disproportion, low set ears with hypoplastic helix, ocular colobomata, pulmonary stenosis,flexion deformity of wrists and elbows, bilateral fifth finger clinodactyly and simian creases, hypoplastic dermal ridges, bilateral talipes, persistent icterus and delayed bone age. The phenotypical and cytogenetic findings permit the individualization of the 10p trisomy.
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ranking = 1.1447569441743
keywords = congenita, defect
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15/293. Post-axial limb defects with maternal sodium valproate exposure.

    A male child is described with bilateral talipes equinovarus, absent fibulae with bowing and shortening of the tibiae and facial dysmorphic features. His mother was on a daily dose of 2000 mg sodium valproate for convulsions. This case raises the possibility that postaxial limb defects might be caused by intrauterine valproate exposure.
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ranking = 0.71428571428571
keywords = defect
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16/293. Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity.

    In 1987 Buttiens and Fryns [1987: Am J Med Genet 27:651-660] reported on two sibs, brother and sister, with severe distal limb defects, micrognathia, and mild to moderate mental retardation. The male also showed severe myopia and oligomeganephronia. To the best of our knowledge, no other similar patients have been described since. We report on a boy with a similar phenotype. .
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ranking = 0.71428571428571
keywords = defect
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17/293. Severe acro-renal-uterine-mandibular syndrome.

    Although limb and renal defects occur together in a variety of patterns of multiple malformations, familial cases of acro-renal disorders are rare. In 1980, Halal et al. inverted question markAm J Med Genet 5:277-284 described two sisters with unusual limb deficiencies, renal anomalies, and mandibular hypoplasia and termed this condition acro-renal-mandibular syndrome. A girl reported earlier by Fitch and Lachance inverted question mark1972; Can Med Assoc J 107:653-656 had similarly limb and renal findings, but an apparently normal jaw. We document three sibs with unusual limb deficiencies, renal agenesis, uterine anomalies in the two females, and orofacial defects, who clearly have a similar but more severe type of acrorenal disorder, apparently inherited as an autosomal recessive condition. The sibs with limb deficiencies and renal agenesis reported by Hennekam et al. inverted question mark1994; Am J Med Genet 53:102-107 appear to be additional cases of this very rare disorder, the pathogenesis of which may be related to abnormal epithelial-mesenchymal interactions.
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ranking = 0.28571428571429
keywords = defect
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18/293. Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.

    We describe cortical malformations in two siblings who also had features of Adams-Oliver syndrome (AOS, MIM 100300). The parents were first cousins and showed no signs of either disorder, suggesting autosomal recessive inheritance. Psychomotor delay was present in both sibs, and cerebral imaging was indicative of polymicrogyria (PMG). One sib had aplasia cutis congenita of the scalp and transverse limb defects, and the other had short fingers and toes and also developed lymphedema of the right leg. CNS abnormalities and lymphatic abnormalities are rare manifestations of AOS, and we suggest that these sibs have a rare variant of AOS with probable recessive inheritance.
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ranking = 102.81909101612
keywords = aplasia cutis congenita, cutis congenita, aplasia cutis, congenita, aplasia, defect, cutis
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19/293. Limb deficiencies in infants with trisomy 13.

    In 1994, we published a case with trisomy 13 who presented with ectrodactyly [Urioste et al., 1994: Am J Med Genet 53:390-392]. Recently, Kuschel and Gillessen-Kaesbach [2000: Am J Med Genet 90:87-88] presented an infant with trisomy 13 who also had oligodactyly, and they considered their case as the second published with oligodactyly. Here, we present three cases with any type of limb deficiencies who, together with the one that was published previously [Urioste et al., 1994], correspond to the total of 75 cases with trisomy 13 identified in the Spanish Collaborative Study of Congenital Malformations (ECEMC). This gives us a minimum frequency of 5.33% (CI:1.45-13.65) for trisomy 13 cases having limb deficiencies whereas these defects have a frequency of 5.51 per 10,000 births in our population. Consequently, we think that limb deficiencies could be considered as one of the defects that constitute the spectrum of anomalies observed in infants with trisomy 13.
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ranking = 0.28571428571429
keywords = defect
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20/293. Macrodactyly: report of eight cases and review of the literature.

    Congenital enlargement of one or several digits of the hands or feet (macrodactyly) is a rare disorder. A considerable proportion of the patients with this condition are referred to dermatology departments. The majority of the cases reported in the literature represent hamartomas with combined hypertrophy of several, predominantly lipomatous, soft tissue components and overgrowth of bone. The differential diagnosis includes klippel-trenaunay-weber syndrome, neurofibromatosis, Milroy disease, and proteus syndrome. We describe eight cases of congenital macrodactyly, discuss the findings, and propose a simple clinicopathologic terminology.
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ranking = 0.50094990065858
keywords = congenita
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