Premaxillary agenesis, ocular hypotelorism holoprosencephaly, and extracranial anomalies in an infant with a normal karyogram.
This four-day-old male infant with holoprosencephaly and facial dysmorphia resembled other cases in that he had several severe extracranial malformations but unusual in that such infants often have an abnormal chromosome pattern, most frequently a trisomy 13. Our patient had a normal karyogram. He differed also in having a lobar rather than an alobar type of holoprosencephaly, which is the more usual form in association with this degree of facial anomaly. A synechia between the lips on one side and segmented double spinal cord (diastematomyelia) are rare lesions in this or any other condition. This infant illustrates the principle that holoprosencephaly and facial dysmorphia together are a symptom complex that may be part of another syndrome rather than a disease in its own right.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002875:Chromosomes; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005145:Face / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008437:Maxilla / Q000002:abnormalities*; D009206:Myocardium / Q000473:pathology