Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome?
AUTOR(ES)
de Die-Smulders, C E
RESUMO
A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1016432Documentos Relacionados
- Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome?
- Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?
- Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
- Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
- Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?
