Cases reported "Microcephaly"

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1/64. Another case of achalasia-microcephaly syndrome.

    The first German patient with achalasia-microcephaly syndrome is described. The mother was exposed to the anti-malarial drug mefloquine during the first 8 weeks of pregnancy.
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2/64. An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.

    A four year old girl with severe mental retardation and multiple congenital abnormalities manifested "partial trisomy 15". Her mother, pregnant at the time of examination, possessed a balanced translocation which, after banding techniques, was identified as t(4;15)(p16;q22). Amnio-centesis revealed the karyotype of the fetus to be identical to that of the proposita and a therapeutic abortion was performed. Prenatal investigation of a subsequent pregnancy revealed a normal male karyotype. Comparison of the proposita and aborted fetus of this family with the 5 reported other cases of "partial trisomy 15" does not allow for a precise recognizable clinical syndrome.
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3/64. Clinical presentation and mutation identification in the NBS1 gene in a boy with nijmegen breakage syndrome.

    nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder which belongs to the group of inherited chromosomal instability syndromes. The clinical characteristics include severe microcephaly, a dysmorphic facies, and immunodeficiency with predisposition to malignancies. While the cellular characteristics of ataxia teleangiectasia (AT) and NBS are similar, the clinical findings are quite distinct. NBS patients show characteristic microcephaly, which is rare in association with AT and they do not develop ataxia and teleangiectasia. Recently, the gene mutated in NBS has been identified. Here we report a 5-year-old Bosnian boy with severe microcephaly. Because of multiple structural aberrations involving chromosomes 7 and 14 typical for AT (MIM 208900) and NBS (MIM 251260), AT was diagnosed. We suggested the diagnosis of NBS because of the boy's remarkable microcephaly, his facial appearance, and the absence of ataxia and teleangiectasia. dna analysis was performed and revealed that the boy is homozygous for the major mutation (657de15) in the NBS1 gene. This finding confirms the diagnosis of NBS in our patient and offers the possibility to perform a most reliable prenatal diagnosis in a further pregnancy.
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4/64. Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.

    Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiographic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease.
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keywords = gestation
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5/64. Early fatal pontocerebellar hypoplasia in premature twin sisters.

    We report clinical, neuroradiological and neuropathological findings of monozygotic twin sisters born at 30 weeks' gestation, with pontocerebellar hypoplasia (PCH) similar but not identical to type 2 PCH. They presented with hypertonia, jitteriness, spontaneous and provoked myoclonic jerks (hyperekplexia), apnoeic episodes, and progressive microcephaly. They died at 7 weeks of age from respiratory failure.
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6/64. Fetal brain disruption sequence in a newborn infant with a history of cordocentesis at 21 weeks gestation.

    The case is reported of a full term infant with severe microcephaly, overlapping sutures, prominence of the occipital bone, and scalp rugae. No other associated malformations were observed. The only obstetric history of interest was the performance of cordocentesis at 21 weeks gestational age because of low maternal alpha fetoprotein levels. Ultrasound scans performed until then were normal. Cranial growth retardation was detected on ultrasound scanning at 25 weeks and intrauterine growth retardation as well as severe microcephaly at 34 weeks. neuroimaging studies performed on the newborn infant showed intense cerebral atrophy in both hemispheres. Other complementary investigations gave negative results. A relation is proposed between the cordocentesis and the development of vascular disruption, which could have caused the fetal brain disruption sequence in this case.
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ranking = 22.655629506366
keywords = gestation
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7/64. Pathologic and laboratory correlation in microcephaly associated with prenatal cocaine exposure.

    The Authors report a case where cocaine abuse during pregnancy assessed by drug analysis at various site was associated with foetal microcephaly. Foetal pathologic findings revealed anomalies in neuronal migration and in the vascular architecture in the brain. Such anomalies might be the result of prolonged exposure to cocaine in utero, aggravated by the high concentration of cocaine metabolites in the amniotic fluid over a prolonged period.
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8/64. Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20.

    Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analysis on cord blood revealed only a normal 46,XX karyotype. Microsatellite analysis of 27 chromosome 20 loci confirmed maternal UPD for all 11 informative markers. Maternal heterodisomy was detected in two and maternal isodisomy in three loci. In the remaining six loci, a non-informative maternal UPD pattern was displayed, as mother and proband are homozygous for the same allele. To our knowledge this is the first reported case of maternal disomy 20 with normal karyotype ascertained by a mosaic trisomy 20 pregnancy.
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9/64. Report and review of the fetal brain disruption sequence.

    The fetal brain disruption sequence (FBDS), a rare cause of extreme microcephaly, is described in a patient and compared with 19 previously reported cases. Clinical findings present in almost all patients included: severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, prominent occipital bone, scalp rugae with normal hair patterning and marked neurological impairment. Early death occurred in 7/20 cases. The FBDS was sporadic in 17 out of 19 reported cases supporting a low recurrence risk for genetic counselling purposes. A group of related observations in cases were thromboembolic phenomenon following death of the co-twin, vascular and/or haematological involvement by prenatal cytomegalovirus infection, prenatal cocaine exposure, direct vascular fetal trauma (cordocentesis) and fetal vascular changes after a maternal car accident causing intracranial bleeding and brain damage. Normal scalp hair pattern in all cases and the second or third trimester location of the disruptive event in two cases suggest that in the FBDS, brain growth is normal throughout the first 18 weeks of gestation at least. CONCLUSION: Pathogenic factors suggest that different forms of vascular injury to the fetal brain (emboli, haemorrhage, vasoconstriction, disseminated intravascular coagulation) can produce partial brain destruction, diminished intracranial pression and skull collapse in the fetal brain disruption sequence.
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keywords = gestation
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10/64. male siblings with dyserythropoiesis, microcephaly and intrauterine growth retardation.

    male siblings with intrauterine growth retardation, hydrops, mild liver dysfunction, chronic diarrhoea, failure to thrive and microcephaly are reported. In both patients, the intrauterine growth retardation was detected in the second trimester of pregnancy. Relatively severe early onset neonatal jaundice, microcytosis, anisocytosis and abnormal iron metabolism were also seen. bone marrow examination in the second sibling showed marked ringed sideroblasts and multilobulated erythroblasts in late developmental stages. The brain was very small with enlarged cerebrospinal fluid space, a reduced number of gyri and a thin cortex. The clinical and laboratory findings in these patients appear to be unique.
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