Meckel–Gruber syndrome: Ultrasonographic diagnosis at 13 weeks' gestational age in an at‐risk case

Pachı́, A.; Giancotti, Antonella; Torcia, F; Prosperi, V De; Maggi, Elisa

doi:10.1002/pd.1970090307

Cited by 27 publications

(16 citation statements)

References 2 publications

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“…Pardes e t a / (1984) reported a case of Meckel syndrome detected at 21 weeks of gestation by ultrasound, recurring in a family with a past history of this disorder. JEEVAN A. VERNEKAR et al Pachi et al (1989) reported a case of Meckel Gruber syndrome diagnosed by antenatal ultrasonography at 13 weeks gestation in a patient with two previous siblings affected with same disorder.…”

Section: Discussionmentioning

confidence: 97%

Antenatal Ultrasonic Diagnosis of Meckel Gruber Syndrome (A Case Report with Review of Literature)

Vernekar

Mishra

Pinto

et al. 1991

Australasian Radiology

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Meckel Gruber syndrome is a rare autosomal recessive disorder with major characteristic features consisting of occipital encephalocele, polydactyly and polycystic kidneys along with other associated malformation. Antenatal ultrasonic examination can establish the correct diagnosis by identifying at least two of the major features described. The antenatal ultrasonic findings and pathology of this uncommon entity are discussed.

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Section: Discussionmentioning

confidence: 97%

Antenatal Ultrasonic Diagnosis of Meckel Gruber Syndrome (A Case Report with Review of Literature)

Vernekar

Mishra

Pinto

et al. 1991

Australasian Radiology

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“…In fact, a recent report [9] describes a case of iniencephaly apertus. Another report describes an instance of occipital encephalocele [10],…”

Section: Discussionmentioning

confidence: 99%

Endovaginal Sonographic Diagnosis of Craniorachischisis at 13 Weeks of Gestation

Grangé¹,

Favre²,

Gasser

1994

Fetal Diagn Ther

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A rare case of craniorachischisis associated with trisomy 18 is described. The diagnosis was made by endovaginal sonography during the first trimester of pregnancy. The case is interesting for two reasons. First, it confirms the importance of carrying out an accurate sonographic examination during the first trimester. Second, it shows us that the postmortem examination should be performed by an experienced anatomist: embryos need to be embedded in paraffin wax for microscopic observation and, at present, little is known about the abnormalities of embryo anatomy.

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“…Zur Absicherung der Diagnose erweist sich die Vermessung des 4. Nach 11 Wochen wird die okzipitale Enzephalozele in der Regel erkannt [35,37]. Ein okzipitaler Defekt war in der Embryonalperiode als Unregelmäûigkeit am Hinterkopf zu sehen [20].…”

Section: Meckel-gruber-syndromunclassified

The central nervous system. Normal development and development anomalies. Ultrasound diagnosis in early pregnancy

Blaas

Eik‐Nes

1999

Gynäkologe

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Meckel–Gruber syndrome: Ultrasonographic diagnosis at 13 weeks' gestational age in an at‐risk case

Abstract: A case of early diagnosis at 13 weeks' gestational age of Meckel-Gruber syndrome by ultrasound is reported in a patient with a 25 per cent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed.

Cited by 27 publications

References 2 publications

Antenatal Ultrasonic Diagnosis of Meckel Gruber Syndrome (A Case Report with Review of Literature)

Antenatal Ultrasonic Diagnosis of Meckel Gruber Syndrome (A Case Report with Review of Literature)

Endovaginal Sonographic Diagnosis of Craniorachischisis at 13 Weeks of Gestation

The central nervous system. Normal development and development anomalies. Ultrasound diagnosis in early pregnancy

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