Survival and spectrum of anomalies in the Meckel syndrome.
We present two sisters whose malformations (hydrocephalus, cystic dysplasia of the kidneys, polydactyly, and cleft palate) are consistent with a diagnosis of the Meckel syndrome. Diagnosis in case 1 was delayed because of two factors: 1) prolonged survival (28 mo), and 2) the absence of severe craniofacial malformations. These two factors may create difficulties in making this diagnosis and result in uncertainty regarding the medical prognosis of the infant and the genetic prognosis for the parents.
D000015:Abnormalities, Multiple / Q000401:mortality* / Q000473:pathology; D001921:Brain / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007690:Polycystic Kidney Diseases / Q000235:genetics* / Q000473:pathology; D013577:Syndrome