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Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases
Author(s) -
Winter Robin M.,
Crawfurd Martin D'A.,
Meire Hylton B.,
Mitchell Nan
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb01795.x
Subject(s) - medicine , abnormality , fetus , anatomy , skull , pregnancy , biology , genetics , psychiatry
Cranial sclerosis with osteopathia striata was diagnosed in four members of a family in three generations. The expression of the gene varied from mild cranial enlargement to cranial abnormality associated with severe Pierre‐Robin triad. The disorder was diagnosed prenatally in the most severely affected member of the family from the finding of an increased biparietal diameter of the fetal head on ultrasound examination.