Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation

Schinzel, Albert; Litschgi, M

doi:10.1136/jmg.21.5.355

Cited by 8 publications

(8 citation statements)

References 6 publications

(2 reference statements)

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“…Our cases seem to fit to the third subclass described by Tolmie et al [1987]. Only two sibships and one sporadic case that seemed to fit this description were reported previously [Bundey and Griffiths, 1977;Schinzel and Litschgi, 1984]. A fourth sibship was described by Silengo et al [1992].…”

Section: Discussionsupporting

confidence: 70%

“…The syndrome of microcephaly and severe myoclonic seizures, profound mental retardation, hypertonia, and spasticity has been described in four pairs of sibs [Bundey and Griffiths, 1977;Schinzel and Litschgi, 1984;Tolmie et al, 1987;Silengo et al, 1992] and one sporadic case [Bundey and Griffiths, 1977]. The radiological description in these cases was based on computed tomography (CT) studies showing ventricular enlargement and brain atrophy.…”

Section: Introductionmentioning

confidence: 99%

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Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

et al. 1998

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We describe an infant who was born to a consanguineous couple of Palestinian origin. The patient had severe microcephaly, myoclonic seizures, hypsarrythmia, spasticity, hypertonicity, and profound mental retardation. A similar case was reported in another unrelated Palestinian family, suggesting that this condition may be endemic. The condition resembles early onset myoclonic seizures and spasticity described by Tolmie et al.: Am J Med Genet 27:583-594 [1987]. To the best of our knowledge, only four pairs of sibs have been described with this syndrome; however, to date no magnetic resonance imaging (MRI) findings were reported for this condition. We present the clinical and radiological findings in the patients, including the first report of MRI findings.

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Section: Discussionsupporting

confidence: 70%

Section: Introductionmentioning

confidence: 99%

Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

et al. 1998

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“…Since 1972 there have only been 3 reports describing a recurrence of microcephaly detected before the last trimester of pregnancy [Pescia et al, 1983;Schinzel et al, 1984;Nguyen The et al, 19851 and one report of third-trimester onset of microcephaly due to maternal phenylketonuria [Lenke et al, 19831. Campbell and Pearce [1983] briefly commented that of 40 referrals, al1 of them patients with a previous history of a microcephalic child, 9 recurrences were correctly diagnosed before 26 wk of gestation.…”

Section: Prenatal Diagnosis Of Genetic Microcephalymentioning

confidence: 99%

Microcephaly: Genetic counselling and antenatal diagnosis after the birth of an affected child

Tolmie¹,

McNay

Stephenson

et al. 1987

Am. J. Med. Genet.

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We describe the clinical and genetic details of a series of microcephalic patients who were referred to the Genetic Counselling Service for the West of Scotland. There were 29 isolated cases of microcephaly and 9 families with recurrent microcephaly. The sib recurrence risk was 19%, which reflects the high incidence of autosomal recessive microcephaly in this series. There was evidence for several varieties of recessive microcephaly. The most frequent, affecting 5 sib pairs, was associated with spastic quadriplegia, seizures, and profound mental handicap. In 15 families with one microcephalic child, prenatal diagnosis by serial ultrasound scans was undertaken in 21 subsequent pregnancies. Four recurrences of microcephaly were detected in the third trimester and one recurrence was missed because no scans were performed after 24 wk gestation when the ultrasound measurements indicated satisfactory head growth. The main reason for late diagnosis of affected fetuses was that head growth did not slow appreciably until the last trimester. The high recurrence risk in this prospective series emphasizes the contribution of autosomal recessive inheritance of microcephaly amongst patients of our Genetic Counselling Service.

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“…and genetic entity is probably the same as that observed by Bundey & Griffths (1977) in three siblings and a sporadic case in their series of children with symmetrical spasticity. Also the sibs reported by Schinzel & Litschgi (1984) possibly fall in this category.…”

Section: Discussionmentioning

confidence: 96%

“…Prenatal diagnosis of severe recessive microcephaly has been successfully attempted (Pescia et al 1983, Schinzel & Litschgi 1984, Nguyen The et al 1985. On the other hand, other reports, including ours, indicate that slowing of fetal head growth might not be detectable until too late in pregnancy (Campbell & Pearce 1983).…”

Section: Discussionmentioning

confidence: 99%

Autosomal recessive microcephaly with early onset seizures and spasticity

et al. 1992

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We describe two siblings, a male and a female pair, born of consanguineous parents, affected with a rare genetic form of congenital microcephaly. The clinical syndrome is characterized by early onset myoclonic seizures, spasticity, and profound psychomotor retardation without detectable brain malformations. To date, only two kindreds and one sporadic case with a similar clinical picture have been observed and reported (Tolmie et al. 1987, Bundey & Griffiths 1977). The severity of the neurological features and their perinatal onset differentiate the syndrome from the more common autosomal recessive microcephaly with spasticity/seizures.

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Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation

Cited by 8 publications

References 6 publications

Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

Autosomal recessive microcephaly with neonatal myoclonic seizures: Clinical and MRI findings

Microcephaly: Genetic counselling and antenatal diagnosis after the birth of an affected child

Autosomal recessive microcephaly with early onset seizures and spasticity

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