title: Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother.
abstract: This is the second reported case of a child with holoprosencephaly and trisomy 21. The first case was born to a diabetic woman; in our case, there was no evidence of diabetes in the mother. Most of the distinctive facial features of Down syndrome were obscured by the presence of cyclopia and a supraorbital proboscis in this infant. The relevance of chromosome analysis in cases with holoprosencephaly is discussed.
authors.affiliation: Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Facultad de Medicina, Universidad Complutense, Madrid, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Urioste
authors.forename: E
authors.initials: E
authors.lastname: Valcarcel
authors.forename: M A
authors.initials: MA
authors.lastname: Gomez
authors.forename: I
authors.initials: I
authors.lastname: Pinel
authors.forename: R
authors.initials: R
authors.lastname: Garcia de León
authors.forename: A
authors.initials: A
authors.lastname: Diaz de Bustamante
authors.forename: R
authors.initials: R
authors.lastname: Tebar
authors.forename: M L
authors.initials: ML
authors.lastname: Martinez-Frias
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009666:Nose / Q000002:abnormalities; D009915:Orbit / Q000002:abnormalities; D011247:Pregnancy; D011254:Pregnancy in Diabetics