title: Aphallia, lung agenesis and multiple defects of blastogenesis.
abstract: We report the association of aphallia, with imperforate anus, bilateral renal dysplasia and complete right lung agenesis in a fetus born of non-consanguineous parents. No maternal diabetes was present. The multiple mesodermal anomalies present in this male fetus, with a severe form of Uro-Rectal-Septum Malformation Sequence associated with unilateral lung agenesis, and rib segmentation anomaly is consistent with an extended defect of blastogenesis, with apparent common timing of the malformations around the 5th to 7th weeks of gestation.
authors.affiliation: Department of Medical Genetics, APHP Robert Debré Hospital, Paris, France. marion.gerard@rdb.aphp.fr
authors.forename: Marion
authors.initials: M
authors.lastname: Gérard-Blanluet
authors.forename: Véronique
authors.initials: V
authors.lastname: Lambert
authors.forename: Suonavy
authors.initials: S
authors.lastname: Khung-Savatovsky
authors.forename: Laurence
authors.initials: L
authors.lastname: Perrin-Sabourin
authors.forename: Sandrine
authors.initials: S
authors.lastname: Passemard
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Anne-Lise
authors.initials: AL
authors.lastname: Delezoide
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000025:Abortion, Eugenic; D001006:Anus, Imperforate / Q000473:pathology; D001755:Blastocyst / Q000473:pathology*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D008297:Male; D010413:Penis / Q000002:abnormalities*; D012272:Ribs / Q000002:abnormalities*; D014564:Urogenital Abnormalities / Q000473:pathology*