[7p-deletion syndrome].
A similar pattern of dysmorphic features and congenital malformations was found in two infants, one with a larger terminal deletion of 7p13-pter and the other with a smaller interstitial deletion of 7p13-p15. The more prominent features of the syndrome include plagioturricephaly (which is caused by premature asymmetric closure of the frontal and coronal sutures), osseous defects of the parietal bones, short fingers, proximally implanted thumbs (in both), microphthalmia, congenital heart defect, and hydronephrosis (one). In addition, both patients revealed intrauterine and postnatal growth retardation and pronounced mental deficits.
Hinkel
G K
GK
Abteilung, Klinische Genetik der Medizinischen Akademie Dresden, DDR.
Tolkendorf
E
E
Bergan
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D003398:Craniosynostoses / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome
7p-Deletions-Syndrom.