A lethal, unclassifiable form of micromelic dwarfism with posterior cleft palate, multiple cervicothoracal vertebral anomalies and iliac hypoplasia: evidence for autosomal recessive inheritance.
Fryns
J P
JP
Moerman
P
P
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002574:Cervical Vertebrae / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D004480:Ectromelia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D007085:Ilium / Q000002:abnormalities; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D013904:Thoracic Vertebrae / Q000002:abnormalities