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Early Diagnosis of Meckel's Syndrome
Author(s) -
Fisher C. C.,
Warren P. S.
Publication year - 1980
Publication title -
australian and new zealand journal of obstetrics and gynaecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.734
H-Index - 65
eISSN - 1479-828X
pISSN - 0004-8666
DOI - 10.1111/j.1479-828x.1980.tb00896.x
Subject(s) - microcephaly , medicine , anatomy , pediatrics
Summary: Meckel's syndrome is a disorder of polygenic origin inherited as an autosomal recessive. The main features are microcephaly, occipital encephalocoele with associated midline facial defects, renal' and limb anomalies. The diagnosis has previously been made ultrasonically by the repeated demonstration of small head size. In this instance a renal anomaly was demonstrated and used to confirm the diagnosis.