Portal de Periódicos da CAPES

Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother

1988; Wiley; Volume: 30; Issue: 4 Linguagem: Inglês

10.1002/ajmg.1320300408

1096-8628

Miguel Urioste, Elizabeth Valcarcel, M.A. Gómez, I. Pinel, R. Garcia de León, A. Díaz de Bustamante, Roque Tebar, María Luísa Martínez‐Frías,

Ocular Disorders and Treatments

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.