title: Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: a distinctive malformation syndrome.
abstract: We report on prenatal and postnatal findings in 4 consecutive fetuses with a pattern of severe congenital anomalies who were born to a healthy nonconsanguineous couple. The spectrum of malformations includes diaphragmatic defects, hypoplastic lungs, omphalocele, limb deficiencies, syndactyly of toes, and ossification defects of the skull. This specific spectrum of anomalies is not fully compatible with that of any established syndrome. No prenatal exposure to any possible teratogen was found. Family history is suggestive for autosomal recessive inheritance, even though germ-line mosaicism in one of the parents cannot completely be excluded.
authors.affiliation: Department of Obstetrics and Gynecology, University Hospital, Zürich, Switzerland.
authors.forename: U G
authors.initials: UG
authors.lastname: Froster
authors.forename: P
authors.initials: P
authors.lastname: Kolditz
authors.forename: J
authors.initials: J
authors.lastname: Wisser
authors.forename: M B
authors.initials: MB
authors.lastname: Robbiani
authors.forename: T
authors.initials: T
authors.lastname: Stallmach
authors.forename: G
authors.initials: G
authors.lastname: Hebisch
authors.forename: R
authors.initials: R
authors.lastname: Huch
authors.forename: A
authors.initials: A
authors.lastname: Huch
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D005333:Fetus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D009999:Ossification, Heterotopic; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D016216:Ultrasonography, Prenatal