Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder.
We report on a fetus with alobar holoprosencephaly, microphthalmia, midline cleft lip and palate, absent nose, dysplastic ears, radial defects, pentalogy of Fallot, unilateral renal aplasia, absent gallbladder, vertebral anomalies, and absence of ribs. The father had a cleft palate, bilateral colobomas of the iris and retina, a bifid uvula, vertebral anomalies, and unilateral congenital hearing loss. His sister had a cleft lip. On the basis of this family and the family reported by Steinfeld [1982], this malformation syndrome can be defined as a rare autosomal dominant syndrome whose main component manifestations are holoprosencephaly, predominantly radial limb deficiency, heart defects, kidney malformations, absence of gallbladder, and vertebral anomalies.
Nöthen
M M
MM
Institut für Humangenetik, Universität Bonn, Germany.
Knöpfle
G
G
Födisch
H J
HJ
Zerres
K
K
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D005314:Embryonic and Fetal Development / Q000502:physiology; D005799:Genes, Dominant; D016142:Holoprosencephaly / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D013577:Syndrome