title: Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.
abstract: We report on 2 sibs, a male and a female, who died shortly after birth from respiratory failure. They combined growth retardation with a Potter-like face, complete phocomelia of the upper limbs, rib anomalies (mainly severe hypoplasia of the 6 upper ribs), renal dysplasia, and external genital abnormalities. We hypothesize that these cases represent evidence for the existence of the "new syndrome" described by Ulbright et al. (Am J Med Genet 17:667-668, 1984). This syndrome appears lethal because of the severe renal dysplasia that causes oligohydramnios and pulmonary hypoplasia. Its mode of inheritance seems to be autosomal recessive.
authors.affiliation: Department of Genetics, Academic Hospital Maastricht, State University of Limburg, Maastricht, The Netherlands.
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: C
authors.initials: C
authors.lastname: de Die-Smulders
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: J
authors.initials: J
authors.lastname: da Costa
authors.forename: P
authors.initials: P
authors.lastname: Bouckaert
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D004480:Ectromelia / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005804:Genes, Lethal; D005808:Genes, Recessive; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital; D008297:Male; D013577:Syndrome