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An autosomal dominant midline cleft syndrome resembling familial holoprosencephaly
Author(s) -
Martin Alice O.,
Perrin Jane C. S.,
Muir W. A.,
Ruch E.,
Schafer Irwin A.
Publication year - 1977
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.1399-0004.1977.tb00903.x
Subject(s) - holoprosencephaly , microcephaly , penetrance , craniofacial , medicine , expressivity , autosomal recessive trait , anatomy , pediatrics , biology , genetics , pregnancy , fetus , phenotype , gene
We have detected a previously unrecognized autosomal dominant syndrome characterized by: mental retardation, microcephaly; craniofacial anomalies including cleft lip and anterior cleft palate, hypotelorism and antimongoloid slant; skeletal anomalies, notably of the foot and spine; and chronic constipation. Despite similarities to familial holoprosencephaly, this disorder appears to be a distinct entity. Incomplete penetrance and variable expressivity accompany transmission of the abnormal allele through four generations of a large kindred. Three of the four affected males survived past 20 years of age; the fourth is an infant. All three affected females died very early in infancy.