Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome.
We present the findings of a "new" sublethal MCA syndrome in three siblings, one female and two boys, the only children of healthy, non-consanguineous parents. In addition to prenatal growth retardation and early demise, they presented the same pattern of multiple malformations: relative microcephaly with bird-headed face, microphthalmos/coloboma iris/cloudy corneae, genital anomalies with hypospadias and cryptorchidism in the two males. Associated anomalies included: cardiac defects (2/3), unilateral cleft lip/cleft palate (1/3), anal stenosis (2/3) and unilateral renal agenesis (1/3).
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Verresen
H
H
Van den Berghe
H
H
D000015:Abnormalities, Multiple; D003103:Coloboma / Q000235:genetics / Q000473:pathology; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D008850:Microphthalmos / Q000235:genetics / Q000473:pathology; D011247:Pregnancy; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000235:genetics*