Facies Dysmorphic FAS Microcephaly 13R

I (W. Wertelecki, M.D.) see a dysmorphic face (facies) and among other signs, I will call attention to a narrow forehead and small calvarium as well as a flat upper lip. These two concurrent signs suggest the imperative to consider as a cause prenatal exposure to alcohol. The manifestations of Fetal Alcohol Syndrome (FAS) are quite variable although a flat upper lip and microcephaly are among the most constant.

PERSPECTIVE: The feet of this patient reveal signs that are signals of dysmorphisms. In isolation the podal (feet) signs could be interpreted as trivial but in combination with the facial dysmorphisms, clearly belong to a syndrome among which FAS is a strong possibility. However, cytogenetic analysis revealed the presence of a partial deletion of the short and long arms of chromosome 13 (13 ring). Such instances require cytogenetic analyses of both parents because ring chromosomes may be a consequence of parental anomaly.