Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother.
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.
Urioste
M
M
Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Valcarcel
E
E
Gomez
M A
MA
Pinel
I
I
Garcia de León
R
R
Diaz de Bustamante
A
A
Tebar
R
R
Martinez-Frias
M L
ML
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