Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome.
We recently described a new lethal malformation syndrome, characterized by typical craniofacial dysmorphism, cleft soft palate, distal limb hypoplasia and diaphragmatic defects. We here report an additional case, which tends to confirm that this syndrome represents a distinct entity among the lethal malformation syndromes.
D000015:Abnormalities, Multiple / Q000235:genetics; D000022:Abortion, Spontaneous; D002972:Cleft Palate / Q000235:genetics*; D003964:Diaphragm / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005804:Genes, Lethal; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome