RESUMO
OBJECTIVE: To determine if metabolite ratios at near-term age predict outcome in very low birth weight preterm infants at 18 to 24 months adjusted age. STUDY DESIGN: Thirty-six infants (birth weight Assuntos
Desenvolvimento Infantil
, Recém-Nascido Prematuro/crescimento & desenvolvimento
, Recém-Nascido Prematuro/metabolismo
, Recém-Nascido de muito Baixo Peso/crescimento & desenvolvimento
, Recém-Nascido de muito Baixo Peso/metabolismo
, Espectroscopia de Ressonância Magnética
, Sistema Nervoso/crescimento & desenvolvimento
, Envelhecimento/metabolismo
, Ácido Aspártico/análogos & derivados
, Ácido Aspártico/metabolismo
, Gânglios da Base/metabolismo
, Colina/metabolismo
, Estudos de Coortes
, Seguimentos
, Humanos
, Recém-Nascido
, Valor Preditivo dos Testes
, Tálamo/metabolismo
RESUMO
We report on two sibs, a 2.5-year-old girl and a 10-month-old boy, with a hitherto unreported combination of congenital anomalies: blepharophimosis, ptosis, midface hypoplasia, abnormal palate, low anterior and posterior hairlines, displaced hair whorl, apparently low-set and abnormally shaped ears, trigonocephaly, dental anomalies, laryngomalacia, sensorineural hearing loss, genital anomalies, hypotonia, and mental retardation. The occurrence of a similar pattern of anomalies in two sibs of opposite sex suggests autosomal recessive inheritance. To our knowledge, this combination of anomalies has not been reported previously, and thus we propose it to be a formal genesis syndrome.
