title: Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: further delineation of presumed new dysmorphic syndrome.
abstract: BACKGROUND
  Ten years ago an unusual association of prenatal growth retardation, microcephaly, coloboma of the iris/eye anomalies, congenital heart defects, and urogenital anomalies was reported for the first time in three siblings. Autosomal recessive inheritance was presumed. This finding has been included in London Winter-Baraitser Dysmorphology Database as a separate entity, but still has not been classified as a distinct syndrome.
  
  
  METHODS
  We report an infant with an association of prenatal growth retardation, microcephaly, facial dysmorphism, eye anomalies, congenital heart defects, and testis retention. Mild craniofacial dysmorphism consists of sloped forehead, bulbous nose tip, and micrognathia. Eye anomalies include coloboma of the iris, choroidea, and optic nerve as well as lens dislocation. The patient also presents with ventricular and atrial septal defects, hypoplastic mitral valve, persistent left superior vena cava, accessory spleen, and club foot.
  
  
  CONCLUSIONS
  To the best of our knowledge, this is the second family and the fourth case with this pattern of birth defects reported worldwide so far. We presume that this combination of multiple congenital anomalies and growth retardation constitutes a newly recognized syndrome of likely autosomal recessive inheritance. So far no data suggest etiological impact of consanguinity, parental age, or environmental factors.
authors.affiliation: Department of Clinical Genetics, University Children's Hospital, Tirsova 10, 11000 Belgrade, Serbia. udkgenetika@udk.bg.ac.yu
authors.forename: Goran
authors.initials: G
authors.lastname: Cuturilo
authors.forename: Ida
authors.initials: I
authors.lastname: Jovanovic
authors.forename: Goran
authors.initials: G
authors.lastname: Vukomanovic
authors.forename: Milan
authors.initials: M
authors.lastname: Djukic
authors.forename: Igor
authors.initials: I
authors.lastname: Stefanovic
authors.forename: Marina
authors.initials: M
authors.lastname: Atanskovic-Markovic
mesh_terms: D000015:Abnormalities, Multiple; D003103:Coloboma / Q000150:complications*; D005317:Fetal Growth Retardation; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000150:complications*; D013577:Syndrome