title: Cerebellar hypoplasia, facial dysmorphism and internal abnormalities: a new recessive syndrome?
abstract: Three female sibs had cerebellar hypoplasia, facial dysmorphism comprising a high forehead, lowset posteriorly rotated ears, a prominent upper lip and receding chin, and variable internal abnormalities. Two of the cases had deficient lobulation of the lungs, two had an atrial septal defect of the heart and developmental abnormalities of the urinary system or internal genitalia, one had holoprosencephaly. All had normal chromosomes. This syndrome does not seem to have been reported before and may be inherited in an autosomal recessive manner.
authors.affiliation: South Thames (East) Regional Genetics Centre, Guy's Hospital, London, UK. m.seller@umds.ac.uk
authors.forename: M J
authors.initials: MJ
authors.lastname: Seller
authors.forename: K
authors.initials: K
authors.lastname: Pal
authors.forename: G
authors.initials: G
authors.lastname: Moscoso
authors.forename: K
authors.initials: K
authors.lastname: Nicolaides
authors.forename: J A
authors.initials: JA
authors.lastname: Hyett
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics; D016142:Holoprosencephaly / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D008297:Male; D011247:Pregnancy; D063173:Retrognathia / Q000235:genetics; D013577:Syndrome